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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: 10-68726568-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=68726568&ref=T&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": "CCAR1",
"hgnc_id": 24236,
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018237.4",
"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": -0.99,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9900000095367432,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_018237.4",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265872.11",
"protein_coding": true,
"protein_id": "NP_060707.2",
"strand": true,
"transcript": "NM_018237.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000265872.11",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018237.4",
"protein_coding": true,
"protein_id": "ENSP00000265872.6",
"strand": true,
"transcript": "ENST00000265872.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 771,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": null,
"cds_end": null,
"cds_length": 2316,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543225.5",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438610.1",
"strand": true,
"transcript": "ENST00000543225.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 645,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": 1939,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536012.5",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.-468+5286T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439642.1",
"strand": true,
"transcript": "ENST00000536012.5",
"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": 3415,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540210.5",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "n.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000437760.1",
"strand": true,
"transcript": "ENST00000540210.5",
"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": 2432,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000541012.5",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "n.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000439153.1",
"strand": true,
"transcript": "ENST00000541012.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": null,
"cds_end": null,
"cds_length": 3486,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928532.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598591.1",
"strand": true,
"transcript": "ENST00000928532.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3919,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859847.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529906.1",
"strand": true,
"transcript": "ENST00000859847.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928525.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598584.1",
"strand": true,
"transcript": "ENST00000928525.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4835,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928528.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598587.1",
"strand": true,
"transcript": "ENST00000928528.1",
"transcript_support_level": null
},
{
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"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928530.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598589.1",
"strand": true,
"transcript": "ENST00000928530.1",
"transcript_support_level": null
},
{
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"aa_length": 1150,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928534.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
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"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598593.1",
"strand": true,
"transcript": "ENST00000928534.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000928535.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598594.1",
"strand": true,
"transcript": "ENST00000928535.1",
"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": 3957,
"cdna_start": null,
"cds_end": null,
"cds_length": 3453,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928536.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598595.1",
"strand": true,
"transcript": "ENST00000928536.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000928537.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598596.1",
"strand": true,
"transcript": "ENST00000928537.1",
"transcript_support_level": null
},
{
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"aa_length": 1148,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4653,
"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": "ENST00000928524.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598583.1",
"strand": true,
"transcript": "ENST00000928524.1",
"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": 3865,
"cdna_start": null,
"cds_end": null,
"cds_length": 3447,
"cds_start": null,
"consequences": [
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],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928529.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598588.1",
"strand": true,
"transcript": "ENST00000928529.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3808,
"cdna_start": null,
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000928533.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598592.1",
"strand": true,
"transcript": "ENST00000928533.1",
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},
{
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"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 24,
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"feature": "ENST00000928521.1",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000598580.1",
"strand": true,
"transcript": "ENST00000928521.1",
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},
{
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"cds_end": null,
"cds_length": 3408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282959.2",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269888.1",
"strand": true,
"transcript": "NM_001282959.2",
"transcript_support_level": 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": 3408,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282960.2",
"gene_hgnc_id": 24236,
"gene_symbol": "CCAR1",
"hgvs_c": "c.73+3991T>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269889.1",
"strand": true,
"transcript": "NM_001282960.2",
"transcript_support_level": null
},
{
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