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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: 12-113867459-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=113867459&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RBM19",
"hgnc_id": 29098,
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_016196.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC124903025",
"hgnc_id": null,
"hgvs_c": "n.4938G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "XR_007063468.1",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000287229",
"hgnc_id": null,
"hgvs_c": "n.416-2353G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000671241.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 2690,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.96,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9599999785423279,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": null,
"cds_end": null,
"cds_length": 2883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016196.4",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261741.10",
"protein_coding": true,
"protein_id": "NP_057280.2",
"strand": false,
"transcript": "NM_016196.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4148,
"cdna_start": null,
"cds_end": null,
"cds_length": 2883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261741.10",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016196.4",
"protein_coding": true,
"protein_id": "ENSP00000261741.5",
"strand": false,
"transcript": "ENST00000261741.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 960,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": null,
"cds_end": null,
"cds_length": 2883,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392561.7",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376344.3",
"strand": false,
"transcript": "ENST00000392561.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1043,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4402,
"cdna_start": null,
"cds_end": null,
"cds_length": 3132,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970408.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640467.1",
"strand": false,
"transcript": "ENST00000970408.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1013,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": null,
"cds_end": null,
"cds_length": 3042,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970412.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640471.1",
"strand": false,
"transcript": "ENST00000970412.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 997,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": null,
"cds_end": null,
"cds_length": 2994,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000926825.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2670-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596884.1",
"strand": false,
"transcript": "ENST00000926825.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 994,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": null,
"cds_end": null,
"cds_length": 2985,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970404.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2487-8563C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640463.1",
"strand": false,
"transcript": "ENST00000970404.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 990,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": null,
"cds_end": null,
"cds_length": 2973,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970413.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640472.1",
"strand": false,
"transcript": "ENST00000970413.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 988,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": null,
"cds_end": null,
"cds_length": 2967,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970403.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640462.1",
"strand": false,
"transcript": "ENST00000970403.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4248,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970406.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640464.1",
"strand": false,
"transcript": "ENST00000970406.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3581,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000970415.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2553-8563C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640474.1",
"strand": false,
"transcript": "ENST00000970415.1",
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},
{
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],
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"feature": "NM_001146698.2",
"gene_hgnc_id": 29098,
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"protein_coding": true,
"protein_id": "NP_001140170.1",
"strand": false,
"transcript": "NM_001146698.2",
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},
{
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"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
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"feature": "NM_001146699.2",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2559-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001140171.1",
"strand": false,
"transcript": "NM_001146699.2",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000545145.6",
"gene_hgnc_id": 29098,
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"hgvs_c": "c.2559-8563C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000442053.2",
"strand": false,
"transcript": "ENST00000545145.6",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000970407.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2556-8563C>T",
"hgvs_p": null,
"intron_rank": 21,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640466.1",
"strand": false,
"transcript": "ENST00000970407.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 2880,
"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970410.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2556-8563C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640469.1",
"strand": false,
"transcript": "ENST00000970410.1",
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},
{
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000970414.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2553-8563C>T",
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000970414.1",
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},
{
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"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000926824.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2550-8563C>T",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "ENST00000926824.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000895029.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2487-8563C>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565088.1",
"strand": false,
"transcript": "ENST00000895029.1",
"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": 4098,
"cdna_start": null,
"cds_end": null,
"cds_length": 2811,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000895030.1",
"gene_hgnc_id": 29098,
"gene_symbol": "RBM19",
"hgvs_c": "c.2487-8563C>T",
"hgvs_p": null,
"intron_rank": 20,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565089.1",
"strand": false,
"transcript": "ENST00000895030.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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