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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: 10-72336656-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=72336656&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAJB12",
"hgnc_id": 14891,
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001365080.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0627,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "10",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12580782175064087,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1128,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_017626.7",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000444643.8",
"protein_coding": true,
"protein_id": "NP_060096.4",
"strand": false,
"transcript": "NM_017626.7",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1128,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000444643.8",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017626.7",
"protein_coding": true,
"protein_id": "ENSP00000403313.2",
"strand": false,
"transcript": "ENST00000444643.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 409,
"aa_ref": "G",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1230,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000394903.6",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378363.2",
"strand": false,
"transcript": "ENST00000394903.6",
"transcript_support_level": 1
},
{
"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": 717,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000473051.1",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "n.210G>A",
"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": "ENST00000473051.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 409,
"aa_ref": "G",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4360,
"cdna_start": 1126,
"cds_end": null,
"cds_length": 1230,
"cds_start": 976,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000338820.7",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.976G>A",
"hgvs_p": "p.Gly326Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000345575.3",
"strand": false,
"transcript": "ENST00000338820.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 386,
"aa_ref": "G",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1326,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1161,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000967016.1",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Gly303Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637075.1",
"strand": false,
"transcript": "ENST00000967016.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 377,
"aa_ref": "G",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1134,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365080.3",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352009.1",
"strand": false,
"transcript": "NM_001365080.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1128,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001002762.5",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001002762.3",
"strand": false,
"transcript": "NM_001002762.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2929,
"cdna_start": 896,
"cds_end": null,
"cds_length": 1128,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001365081.3",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352010.1",
"strand": false,
"transcript": "NM_001365081.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 375,
"aa_ref": "G",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3209,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 1128,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000876766.1",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.874G>A",
"hgvs_p": "p.Gly292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546825.1",
"strand": false,
"transcript": "ENST00000876766.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 368,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1270,
"cdna_start": 875,
"cds_end": null,
"cds_length": 1107,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000876767.1",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Gly285Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546826.1",
"strand": false,
"transcript": "ENST00000876767.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 368,
"aa_ref": "G",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2472,
"cdna_start": 918,
"cds_end": null,
"cds_length": 1107,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000926394.1",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.853G>A",
"hgvs_p": "p.Gly285Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596453.1",
"strand": false,
"transcript": "ENST00000926394.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 275,
"aa_ref": "G",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 575,
"cds_end": null,
"cds_length": 828,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000463786.2",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Gly192Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476941.1",
"strand": false,
"transcript": "ENST00000463786.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 267,
"aa_ref": "G",
"aa_start": 184,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 964,
"cdna_start": 569,
"cds_end": null,
"cds_length": 804,
"cds_start": 550,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876768.1",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.550G>A",
"hgvs_p": "p.Gly184Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546827.1",
"strand": false,
"transcript": "ENST00000876768.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 172,
"aa_ref": "G",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2369,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 519,
"cds_start": 259,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000461919.5",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "c.259G>A",
"hgvs_p": "p.Gly87Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000476453.1",
"strand": false,
"transcript": "ENST00000461919.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NR_157570.3",
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"hgvs_c": "n.896G>A",
"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": "NR_157570.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs541957547",
"effect": "missense_variant",
"frequency_reference_population": 0.0000030977399,
"gene_hgnc_id": 14891,
"gene_symbol": "DNAJB12",
"gnomad_exomes_ac": 3,
"gnomad_exomes_af": 0.00000205229,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131323,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.009,
"pos": 72336656,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.087,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001365080.3"
}
]
}