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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: 17-21290443-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=21290443&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MAP2K3",
"hgnc_id": 6843,
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_145109.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 347,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": null,
"cds_end": null,
"cds_length": 1044,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_145109.3",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000342679.9",
"protein_coding": true,
"protein_id": "NP_659731.1",
"strand": true,
"transcript": "NM_145109.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 347,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": null,
"cds_end": null,
"cds_length": 1044,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342679.9",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145109.3",
"protein_coding": true,
"protein_id": "ENSP00000345083.4",
"strand": true,
"transcript": "ENST00000342679.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 396,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": null,
"cds_end": null,
"cds_length": 1191,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910861.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580920.1",
"strand": true,
"transcript": "ENST00000910861.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2285,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910862.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580921.1",
"strand": true,
"transcript": "ENST00000910862.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000949557.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619616.1",
"strand": true,
"transcript": "ENST00000949557.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 328,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": null,
"cds_end": null,
"cds_length": 987,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910863.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580922.1",
"strand": true,
"transcript": "ENST00000910863.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2381,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001316332.2",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.-164+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303261.1",
"strand": true,
"transcript": "NM_001316332.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002756.4",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.-39+2352G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002747.2",
"strand": true,
"transcript": "NM_002756.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1246,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316920.10",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.-164+2352G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000319139.6",
"strand": true,
"transcript": "ENST00000316920.10",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 318,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": null,
"cds_end": null,
"cds_length": 957,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361818.9",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.-39+2352G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355081.5",
"strand": true,
"transcript": "ENST00000361818.9",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 930,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000910864.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580923.1",
"strand": true,
"transcript": "ENST00000910864.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000526076.6",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.-39+2352G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000434068.2",
"strand": true,
"transcript": "ENST00000526076.6",
"transcript_support_level": 4
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000529517.1",
"gene_hgnc_id": 6843,
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"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000431203.1",
"strand": true,
"transcript": "ENST00000529517.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 2,
"exon_rank": null,
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"feature": "ENST00000627447.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.50-5232G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000486923.1",
"strand": true,
"transcript": "ENST00000627447.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_017024857.3",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.406+5117G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016880346.2",
"strand": true,
"transcript": "XM_017024857.3",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "XM_047436408.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047292364.1",
"strand": true,
"transcript": "XM_047436408.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": null,
"cds_end": null,
"cds_length": 972,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047436409.1",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.37+5117G>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047292365.1",
"strand": true,
"transcript": "XM_047436409.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
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"feature": "XM_011523959.3",
"gene_hgnc_id": 6843,
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"strand": true,
"transcript": "XM_011523959.3",
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},
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"consequences": [
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],
"exon_count": 14,
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"feature": "XM_017024859.2",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "c.-258-5232G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016880348.1",
"strand": true,
"transcript": "XM_017024859.2",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
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"cds_end": null,
"cds_length": null,
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"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395491.6",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "n.49+5474G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000378869.2",
"strand": true,
"transcript": "ENST00000395491.6",
"transcript_support_level": 2
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000479129.5",
"gene_hgnc_id": 6843,
"gene_symbol": "MAP2K3",
"hgvs_c": "n.50-5232G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463417.1",
"strand": true,
"transcript": "ENST00000479129.5",
"transcript_support_level": 3
},
{
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"aa_ref": null,
"aa_start": null,
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