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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: 19-10782966-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10782966&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10782966,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000389253.9",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "NM_001005361.3",
"protein_id": "NP_001005361.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 870,
"cds_start": 695,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": "ENST00000389253.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "ENST00000389253.9",
"protein_id": "ENSP00000373905.4",
"transcript_support_level": 5,
"aa_start": 232,
"aa_end": null,
"aa_length": 870,
"cds_start": 695,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": "NM_001005361.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "ENST00000355667.11",
"protein_id": "ENSP00000347890.6",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 870,
"cds_start": 695,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "ENST00000585892.5",
"protein_id": "ENSP00000468734.1",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 869,
"cds_start": 695,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 2774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "ENST00000359692.10",
"protein_id": "ENSP00000352721.6",
"transcript_support_level": 1,
"aa_start": 232,
"aa_end": null,
"aa_length": 866,
"cds_start": 695,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 845,
"cdna_end": null,
"cdna_length": 3588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "NM_001005360.3",
"protein_id": "NP_001005360.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 870,
"cds_start": 695,
"cds_end": null,
"cds_length": 2613,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "NM_001190716.2",
"protein_id": "NP_001177645.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 869,
"cds_start": 695,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "NM_001005362.3",
"protein_id": "NP_001005362.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 866,
"cds_start": 695,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "NM_004945.4",
"protein_id": "NP_004936.2",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 866,
"cds_start": 695,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 3621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr",
"transcript": "ENST00000408974.8",
"protein_id": "ENSP00000386192.3",
"transcript_support_level": 2,
"aa_start": 232,
"aa_end": null,
"aa_length": 866,
"cds_start": 695,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.201T>C",
"hgvs_p": null,
"transcript": "ENST00000587485.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 530,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.429T>C",
"hgvs_p": null,
"transcript": "ENST00000591118.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 576,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.55T>C",
"hgvs_p": null,
"transcript": "ENST00000591701.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 863,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.883T>C",
"hgvs_p": null,
"transcript": "ENST00000682285.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3240,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.883T>C",
"hgvs_p": null,
"transcript": "ENST00000682524.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "n.883T>C",
"hgvs_p": null,
"transcript": "ENST00000683738.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"hgvs_c": "c.-50T>C",
"hgvs_p": null,
"transcript": "ENST00000587830.2",
"protein_id": "ENSP00000466603.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 288,
"cds_start": -4,
"cds_end": null,
"cds_length": 868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNM2",
"gene_hgnc_id": 2974,
"dbsnp": "rs749672066",
"frequency_reference_population": 0.000019207368,
"hom_count_reference_population": 0,
"allele_count_reference_population": 31,
"gnomad_exomes_af": 0.0000205235,
"gnomad_genomes_af": 0.00000656935,
"gnomad_exomes_ac": 30,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9479605555534363,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.912,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5276,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.017,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PP3_Strong"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000389253.9",
"gene_symbol": "DNM2",
"hgnc_id": 2974,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.695T>C",
"hgvs_p": "p.Ile232Thr"
}
],
"clinvar_disease": "Autosomal dominant centronuclear myopathy,Charcot-Marie-Tooth disease dominant intermediate B,Fetal akinesia-cerebral and retinal hemorrhage syndrome,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Charcot-Marie-Tooth disease dominant intermediate B|not provided|Charcot-Marie-Tooth disease dominant intermediate B;Fetal akinesia-cerebral and retinal hemorrhage syndrome;Autosomal dominant centronuclear myopathy|Autosomal dominant centronuclear myopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}