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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: 2-182741255-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=182741255&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DNAJC10",
"hgnc_id": 24637,
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_018981.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 20,
"alphamissense_prediction": null,
"alphamissense_score": 0.1115,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.31,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2350488305091858,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 793,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20144,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_018981.4",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264065.12",
"protein_coding": true,
"protein_id": "NP_061854.1",
"strand": true,
"transcript": "NM_018981.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 793,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 20144,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000264065.12",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018981.4",
"protein_coding": true,
"protein_id": "ENSP00000264065.6",
"strand": true,
"transcript": "ENST00000264065.12",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 747,
"aa_ref": "H",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20006,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2244,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000616986.5",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.His318Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479930.1",
"strand": true,
"transcript": "ENST00000616986.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 19607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000418559.6",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "n.*80C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389483.1",
"strand": true,
"transcript": "ENST00000418559.6",
"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": 20962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000491074.6",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "n.2235C>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": "ENST00000491074.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 19607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 21,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000418559.6",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "n.*80C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000389483.1",
"strand": true,
"transcript": "ENST00000418559.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 803,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874159.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544218.1",
"strand": true,
"transcript": "ENST00000874159.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 793,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6925,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874155.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544214.1",
"strand": true,
"transcript": "ENST00000874155.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 793,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5751,
"cdna_start": 1596,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000960778.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630837.1",
"strand": true,
"transcript": "ENST00000960778.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 793,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 2382,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000960780.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630839.1",
"strand": true,
"transcript": "ENST00000960780.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 792,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6304,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874156.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544215.1",
"strand": true,
"transcript": "ENST00000874156.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 773,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20086,
"cdna_start": 1522,
"cds_end": null,
"cds_length": 2322,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000680258.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504932.1",
"strand": true,
"transcript": "ENST00000680258.1",
"transcript_support_level": null
},
{
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"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4124,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874158.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544217.1",
"strand": true,
"transcript": "ENST00000874158.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 772,
"aa_ref": "H",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 2319,
"cds_start": 1027,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000960779.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1027C>T",
"hgvs_p": "p.His343Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630838.1",
"strand": true,
"transcript": "ENST00000960779.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 768,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 19812,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1015,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000679884.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1015C>T",
"hgvs_p": "p.His339Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506233.1",
"strand": true,
"transcript": "ENST00000679884.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 758,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1090,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874157.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544216.1",
"strand": true,
"transcript": "ENST00000874157.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 753,
"aa_ref": "H",
"aa_start": 364,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4028,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 2262,
"cds_start": 1090,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000874160.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.1090C>T",
"hgvs_p": "p.His364Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544219.1",
"strand": true,
"transcript": "ENST00000874160.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 752,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2914,
"cdna_start": 1386,
"cds_end": null,
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"cds_start": 967,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000960781.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.967C>T",
"hgvs_p": "p.His323Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630840.1",
"strand": true,
"transcript": "ENST00000960781.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 747,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20006,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2244,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001271581.3",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.His318Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258510.1",
"strand": true,
"transcript": "NM_001271581.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 746,
"aa_ref": "H",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3078,
"cdna_start": 1333,
"cds_end": null,
"cds_length": 2241,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000874161.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.His318Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000544220.1",
"strand": true,
"transcript": "ENST00000874161.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 727,
"aa_ref": "H",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 2184,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000929252.1",
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
"hgvs_c": "c.952C>T",
"hgvs_p": "p.His318Tyr",
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"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs138024183",
"effect": "missense_variant",
"frequency_reference_population": 0.000012492302,
"gene_hgnc_id": 24637,
"gene_symbol": "DNAJC10",
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"gnomad_genomes_ac": 9,
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"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 3.949,
"pos": 182741255,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.189,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018981.4"
}
]
}