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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: 9-128239524-TC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128239524&ref=TC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128239524,
"ref": "TC",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000372923.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+14delC",
"hgvs_p": null,
"transcript": "NM_004408.4",
"protein_id": "NP_004399.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": "ENST00000372923.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000372923.8",
"protein_id": "ENSP00000362014.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": "NM_004408.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000486160.3",
"protein_id": "ENSP00000420045.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000634267.2",
"protein_id": "ENSP00000489096.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 856,
"cds_start": -4,
"cds_end": null,
"cds_length": 2571,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000341179.11",
"protein_id": "ENSP00000345680.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.1294+10delC",
"hgvs_p": null,
"transcript": "ENST00000441149.6",
"protein_id": null,
"transcript_support_level": 1,
"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": 3286,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+14delC",
"hgvs_p": null,
"transcript": "NM_001374269.1",
"protein_id": "NP_001361198.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3862,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000706053.1",
"protein_id": "ENSP00000516205.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+14delC",
"hgvs_p": null,
"transcript": "NM_001288739.2",
"protein_id": "NP_001275668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3217,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000628346.2",
"protein_id": "ENSP00000486525.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 864,
"cds_start": -4,
"cds_end": null,
"cds_length": 2595,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+14delC",
"hgvs_p": null,
"transcript": "NM_001005336.3",
"protein_id": "NP_001005336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+14delC",
"hgvs_p": null,
"transcript": "NM_001288737.2",
"protein_id": "NP_001275666.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+14delC",
"hgvs_p": null,
"transcript": "NM_001288738.2",
"protein_id": "NP_001275667.1",
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000393594.7",
"protein_id": "ENSP00000377219.3",
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000475805.5",
"protein_id": "ENSP00000419225.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1493+10delC",
"hgvs_p": null,
"transcript": "ENST00000627543.2",
"protein_id": "ENSP00000487310.1",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1406+10delC",
"hgvs_p": null,
"transcript": "ENST00000627061.2",
"protein_id": "ENSP00000486437.1",
"transcript_support_level": 5,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "c.1127+10delC",
"hgvs_p": null,
"transcript": "ENST00000706054.1",
"protein_id": "ENSP00000516206.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 662,
"cds_start": -4,
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"cds_length": 1989,
"cdna_start": null,
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"cdna_length": 2005,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.615+10delC",
"hgvs_p": null,
"transcript": "ENST00000463998.3",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.*177+10delC",
"hgvs_p": null,
"transcript": "ENST00000482638.6",
"protein_id": "ENSP00000420808.3",
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"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.*232+10delC",
"hgvs_p": null,
"transcript": "ENST00000637999.1",
"protein_id": "ENSP00000489985.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"hgvs_c": "n.-203delC",
"hgvs_p": null,
"transcript": "ENST00000636220.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DNM1",
"gene_hgnc_id": 2972,
"dbsnp": "rs371426966",
"frequency_reference_population": 0.00059703237,
"hom_count_reference_population": 4,
"allele_count_reference_population": 961,
"gnomad_exomes_af": 0.000615781,
"gnomad_genomes_af": 0.000414178,
"gnomad_exomes_ac": 899,
"gnomad_genomes_ac": 62,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 1.571,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP6_Very_Strong,BS2",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP6_Very_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000372923.8",
"gene_symbol": "DNM1",
"hgnc_id": 2972,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1493+10delC",
"hgvs_p": null
}
],
"clinvar_disease": " 31A,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "Developmental and epileptic encephalopathy, 31A|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}