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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: 11-34658506-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34658506&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": "EHF",
"hgnc_id": 3246,
"hgvs_c": "c.674-27G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001206616.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000309708",
"hgnc_id": null,
"hgvs_c": "n.744+44C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000843229.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 782697,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.94,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012153.6",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000257831.8",
"protein_coding": true,
"protein_id": "NP_036285.2",
"strand": true,
"transcript": "NM_012153.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5399,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000257831.8",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012153.6",
"protein_coding": true,
"protein_id": "ENSP00000257831.3",
"strand": true,
"transcript": "ENST00000257831.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 322,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1481,
"cdna_start": null,
"cds_end": null,
"cds_length": 969,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000531794.5",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.674-27G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435835.1",
"strand": true,
"transcript": "ENST00000531794.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530286.5",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433508.1",
"strand": true,
"transcript": "ENST00000530286.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533754.5",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435837.1",
"strand": true,
"transcript": "ENST00000533754.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 277,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2519,
"cdna_start": null,
"cds_end": null,
"cds_length": 834,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450654.6",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.539-27G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399733.2",
"strand": true,
"transcript": "ENST00000450654.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 322,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5350,
"cdna_start": null,
"cds_end": null,
"cds_length": 969,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001206616.2",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.674-27G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193545.1",
"strand": true,
"transcript": "NM_001206616.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 321,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5347,
"cdna_start": null,
"cds_end": null,
"cds_length": 966,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378052.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.671-27G>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364981.1",
"strand": true,
"transcript": "NM_001378052.1",
"transcript_support_level": null
},
{
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"aa_length": 303,
"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5587,
"cdna_start": null,
"cds_end": null,
"cds_length": 912,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378053.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.617-27G>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364982.1",
"strand": true,
"transcript": "NM_001378053.1",
"transcript_support_level": 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": 10,
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"feature": "NM_001378041.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364970.1",
"strand": true,
"transcript": "NM_001378041.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001378042.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364971.1",
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"transcript": "NM_001378042.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001378043.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
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"mane_plus": null,
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"protein_coding": true,
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},
{
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],
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"feature": "NM_001378044.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364973.1",
"strand": true,
"transcript": "NM_001378044.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001378045.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364974.1",
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},
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001378046.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364975.1",
"strand": true,
"transcript": "NM_001378046.1",
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},
{
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"consequences": [
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],
"exon_count": 9,
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"feature": "NM_001378047.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001364976.1",
"strand": true,
"transcript": "NM_001378047.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000907181.1",
"gene_hgnc_id": 3246,
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"strand": true,
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},
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],
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"feature": "ENST00000907182.1",
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"strand": true,
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},
{
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],
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"feature": "ENST00000907185.1",
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000907185.1",
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},
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
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"feature": "ENST00000907188.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
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"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577247.1",
"strand": true,
"transcript": "ENST00000907188.1",
"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": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000907189.1",
"gene_hgnc_id": 3246,
"gene_symbol": "EHF",
"hgvs_c": "c.608-27G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000577248.1",
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