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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: 10-72336650-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72336650&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 72336650,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365080.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "NM_017626.7",
"protein_id": "NP_060096.4",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 375,
"cds_start": 880,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000444643.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017626.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "ENST00000444643.8",
"protein_id": "ENSP00000403313.2",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 375,
"cds_start": 880,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017626.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000444643.8"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Val328Ile",
"transcript": "ENST00000394903.6",
"protein_id": "ENSP00000378363.2",
"transcript_support_level": 1,
"aa_start": 328,
"aa_end": null,
"aa_length": 409,
"cds_start": 982,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394903.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "n.216G>A",
"hgvs_p": null,
"transcript": "ENST00000473051.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000473051.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.982G>A",
"hgvs_p": "p.Val328Ile",
"transcript": "ENST00000338820.7",
"protein_id": "ENSP00000345575.3",
"transcript_support_level": 2,
"aa_start": 328,
"aa_end": null,
"aa_length": 409,
"cds_start": 982,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338820.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Val305Ile",
"transcript": "ENST00000967016.1",
"protein_id": "ENSP00000637075.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 386,
"cds_start": 913,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967016.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "NM_001365080.3",
"protein_id": "NP_001352009.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 377,
"cds_start": 880,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365080.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "NM_001002762.5",
"protein_id": "NP_001002762.3",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 375,
"cds_start": 880,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002762.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "NM_001365081.3",
"protein_id": "NP_001352010.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 375,
"cds_start": 880,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365081.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile",
"transcript": "ENST00000876766.1",
"protein_id": "ENSP00000546825.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 375,
"cds_start": 880,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876766.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Val287Ile",
"transcript": "ENST00000876767.1",
"protein_id": "ENSP00000546826.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 368,
"cds_start": 859,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876767.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.859G>A",
"hgvs_p": "p.Val287Ile",
"transcript": "ENST00000926394.1",
"protein_id": "ENSP00000596453.1",
"transcript_support_level": null,
"aa_start": 287,
"aa_end": null,
"aa_length": 368,
"cds_start": 859,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926394.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.580G>A",
"hgvs_p": "p.Val194Ile",
"transcript": "ENST00000463786.2",
"protein_id": "ENSP00000476941.1",
"transcript_support_level": 2,
"aa_start": 194,
"aa_end": null,
"aa_length": 275,
"cds_start": 580,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000463786.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.556G>A",
"hgvs_p": "p.Val186Ile",
"transcript": "ENST00000876768.1",
"protein_id": "ENSP00000546827.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 267,
"cds_start": 556,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876768.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"transcript": "ENST00000461919.5",
"protein_id": "ENSP00000476453.1",
"transcript_support_level": 2,
"aa_start": 89,
"aa_end": null,
"aa_length": 172,
"cds_start": 265,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461919.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"hgvs_c": "n.902G>A",
"hgvs_p": null,
"transcript": "NR_157570.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_157570.3"
}
],
"gene_symbol": "DNAJB12",
"gene_hgnc_id": 14891,
"dbsnp": "rs139677749",
"frequency_reference_population": 0.000059475205,
"hom_count_reference_population": 0,
"allele_count_reference_population": 96,
"gnomad_exomes_af": 0.0000608839,
"gnomad_genomes_af": 0.0000459559,
"gnomad_exomes_ac": 89,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.027888596057891846,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.102,
"revel_prediction": "Benign",
"alphamissense_score": 0.0679,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.369,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001365080.3",
"gene_symbol": "DNAJB12",
"hgnc_id": 14891,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.880G>A",
"hgvs_p": "p.Val294Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}