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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: 22-44858015-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=44858015&ref=C&alt=T&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": "PRR5-ARHGAP8",
"hgnc_id": 34512,
"hgvs_c": "c.1271-1716C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_181334.6",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARHGAP8",
"hgnc_id": 677,
"hgvs_c": "c.971-1716C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001017526.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 22674,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -1.03,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -1.0299999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181335.3",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.878-1716C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000356099.11",
"protein_coding": true,
"protein_id": "NP_851852.2",
"strand": true,
"transcript": "NM_181335.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1615,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356099.11",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.878-1716C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_181335.3",
"protein_coding": true,
"protein_id": "ENSP00000348407.6",
"strand": true,
"transcript": "ENST00000356099.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 643,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2043,
"cdna_start": null,
"cds_end": null,
"cds_length": 1932,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352766.11",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.1508-1716C>T",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262731.11",
"strand": true,
"transcript": "ENST00000352766.11",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 305,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": null,
"cds_end": null,
"cds_length": 918,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000336963.8",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.878-4260C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337287.4",
"strand": true,
"transcript": "ENST00000336963.8",
"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": 1474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000389772.8",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "n.*703-1716C>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000374422.4",
"strand": true,
"transcript": "ENST00000389772.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2155,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_181334.6",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.1271-1716C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_851851.3",
"strand": true,
"transcript": "NM_181334.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 564,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": null,
"cds_end": null,
"cds_length": 1695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361473.9",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.1271-1716C>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354732.5",
"strand": true,
"transcript": "ENST00000361473.9",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 503,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1590,
"cdna_start": null,
"cds_end": null,
"cds_length": 1512,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000515632.2",
"gene_hgnc_id": 34512,
"gene_symbol": "PRR5-ARHGAP8",
"hgvs_c": "c.1037-1665C>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425026.1",
"strand": true,
"transcript": "ENST00000515632.2",
"transcript_support_level": 2
},
{
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"aa_length": 498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": null,
"cds_end": null,
"cds_length": 1497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954603.1",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.1073-1716C>T",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624662.1",
"strand": true,
"transcript": "ENST00000954603.1",
"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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],
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"feature": "ENST00000954605.1",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.971-1665C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000624664.1",
"strand": true,
"transcript": "ENST00000954605.1",
"transcript_support_level": null
},
{
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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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],
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"feature": "ENST00000929963.1",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.956-1665C>T",
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"protein_id": "ENSP00000600022.1",
"strand": true,
"transcript": "ENST00000929963.1",
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},
{
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],
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"feature": "ENST00000859072.1",
"gene_hgnc_id": 677,
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"hgvs_c": "c.980-1716C>T",
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"protein_coding": true,
"protein_id": "ENSP00000529131.1",
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},
{
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],
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"feature": "NM_001017526.2",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.971-1716C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001017526.1",
"strand": true,
"transcript": "NM_001017526.2",
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},
{
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],
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"feature": "ENST00000389774.6",
"gene_hgnc_id": 677,
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"hgvs_c": "c.971-1716C>T",
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"protein_coding": true,
"protein_id": "ENSP00000374424.2",
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},
{
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"consequences": [
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],
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"feature": "ENST00000859080.1",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.971-1716C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529139.1",
"strand": true,
"transcript": "ENST00000859080.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000859071.1",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.956-1716C>T",
"hgvs_p": null,
"intron_rank": 11,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529130.1",
"strand": true,
"transcript": "ENST00000859071.1",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000859074.1",
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"protein_id": "ENSP00000529133.1",
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},
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],
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"feature": "ENST00000859083.1",
"gene_hgnc_id": 677,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000859083.1",
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},
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"consequences": [
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],
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"feature": "ENST00000859073.1",
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"hgvs_c": "c.878-1716C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000529132.1",
"strand": true,
"transcript": "ENST00000859073.1",
"transcript_support_level": null
},
{
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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": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000859076.1",
"gene_hgnc_id": 677,
"gene_symbol": "ARHGAP8",
"hgvs_c": "c.878-1716C>T",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529135.1",
"strand": true,
"transcript": "ENST00000859076.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1609,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000859077.1",
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