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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: 17-75373341-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75373341&ref=C&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": "GRB2",
"hgnc_id": 4566,
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_002086.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000265987",
"hgnc_id": null,
"hgvs_c": "n.82C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000585081.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000264853",
"hgnc_id": null,
"hgvs_c": "n.396G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000578539.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002086.5",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316804.10",
"protein_coding": true,
"protein_id": "NP_002077.1",
"strand": false,
"transcript": "NM_002086.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3273,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000316804.10",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002086.5",
"protein_coding": true,
"protein_id": "ENSP00000339007.4",
"strand": false,
"transcript": "ENST00000316804.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3182,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392564.5",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376347.1",
"strand": false,
"transcript": "ENST00000392564.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 176,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": null,
"cds_end": null,
"cds_length": 531,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392563.5",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376346.1",
"strand": false,
"transcript": "ENST00000392563.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 227,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": null,
"cds_end": null,
"cds_length": 684,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970151.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640210.1",
"strand": false,
"transcript": "ENST00000970151.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3729,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392562.5",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376345.1",
"strand": false,
"transcript": "ENST00000392562.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3687,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932796.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602855.1",
"strand": false,
"transcript": "ENST00000932796.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000932798.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602857.1",
"strand": false,
"transcript": "ENST00000932798.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 217,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": null,
"cds_end": null,
"cds_length": 654,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970153.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640211.1",
"strand": false,
"transcript": "ENST00000970153.1",
"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": 3293,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904768.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574827.1",
"strand": false,
"transcript": "ENST00000904768.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000932797.1",
"gene_hgnc_id": 4566,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602856.1",
"strand": false,
"transcript": "ENST00000932797.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000970154.1",
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"protein_coding": true,
"protein_id": "ENSP00000640212.1",
"strand": false,
"transcript": "ENST00000970154.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000970150.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640209.1",
"strand": false,
"transcript": "ENST00000970150.1",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000904770.1",
"gene_hgnc_id": 4566,
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"hgvs_c": "c.78+20210G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000574829.1",
"strand": false,
"transcript": "ENST00000904770.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000904769.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000574828.1",
"strand": false,
"transcript": "ENST00000904769.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 612,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000970155.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000640214.1",
"strand": false,
"transcript": "ENST00000970155.1",
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},
{
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"consequences": [
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],
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"feature": "NM_203506.3",
"gene_hgnc_id": 4566,
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"protein_coding": true,
"protein_id": "NP_987102.1",
"strand": false,
"transcript": "NM_203506.3",
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},
{
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"consequences": [
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],
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"feature": "ENST00000316615.9",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000317360.5",
"strand": false,
"transcript": "ENST00000316615.9",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
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"feature": "ENST00000578961.5",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464279.1",
"strand": false,
"transcript": "ENST00000578961.5",
"transcript_support_level": 3
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 584,
"cdna_start": null,
"cds_end": null,
"cds_length": 332,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582582.1",
"gene_hgnc_id": 4566,
"gene_symbol": "GRB2",
"hgvs_c": "c.78+20210G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462785.1",
"strand": false,
"transcript": "ENST00000582582.1",
"transcript_support_level": 4
},
{
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"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
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}