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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: 3-9793140-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=9793140&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARPC4",
"hgnc_id": 707,
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Pro7Ala",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001198780.3",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARPC4-TTLL3",
"hgnc_id": 38830,
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001198793.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "TADA3",
"hgnc_id": 19422,
"hgvs_c": "c.-346G>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001278270.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 8,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0566,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07151591777801514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005718.5",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000397261.8",
"protein_coding": true,
"protein_id": "NP_005709.1",
"strand": true,
"transcript": "NM_005718.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1433,
"cdna_start": null,
"cds_end": null,
"cds_length": 507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397261.8",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005718.5",
"protein_coding": true,
"protein_id": "ENSP00000380431.2",
"strand": true,
"transcript": "ENST00000397261.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000397256.5",
"gene_hgnc_id": 38830,
"gene_symbol": "ARPC4-TTLL3",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380427.1",
"strand": true,
"transcript": "ENST00000397256.5",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 187,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1490,
"cdna_start": 59,
"cds_end": null,
"cds_length": 564,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001198780.3",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Pro7Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185709.1",
"strand": true,
"transcript": "NM_001198780.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 187,
"aa_ref": "P",
"aa_start": 7,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 926,
"cdna_start": 24,
"cds_end": null,
"cds_length": 564,
"cds_start": 19,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000433034.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.19C>G",
"hgvs_p": "p.Pro7Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388169.1",
"strand": true,
"transcript": "ENST00000433034.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 76,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 577,
"cdna_start": null,
"cds_end": null,
"cds_length": 231,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000485273.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.-302C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473435.1",
"strand": true,
"transcript": "ENST00000485273.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 625,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3987,
"cdna_start": null,
"cds_end": null,
"cds_length": 1878,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001198793.1",
"gene_hgnc_id": 38830,
"gene_symbol": "ARPC4-TTLL3",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185722.1",
"strand": true,
"transcript": "NM_001198793.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1961,
"cdna_start": null,
"cds_end": null,
"cds_length": 501,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957522.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627581.1",
"strand": true,
"transcript": "ENST00000957522.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 153,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1371,
"cdna_start": null,
"cds_end": null,
"cds_length": 462,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929599.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599658.1",
"strand": true,
"transcript": "ENST00000929599.1",
"transcript_support_level": null
},
{
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"aa_length": 136,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": null,
"cds_end": null,
"cds_length": 411,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905840.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575899.1",
"strand": true,
"transcript": "ENST00000905840.1",
"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": 1852,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000929598.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000599657.1",
"strand": true,
"transcript": "ENST00000929598.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001024959.3",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.-268+435C>G",
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"protein_coding": true,
"protein_id": "NP_001020130.1",
"strand": true,
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "NM_001024960.3",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.-268+580C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001020131.1",
"strand": true,
"transcript": "NM_001024960.3",
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},
{
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000498623.6",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
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"protein_coding": true,
"protein_id": "ENSP00000432235.1",
"strand": true,
"transcript": "ENST00000498623.6",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1107,
"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905841.1",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "c.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575900.1",
"strand": true,
"transcript": "ENST00000905841.1",
"transcript_support_level": null
},
{
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"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000417500.5",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "n.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000414751.1",
"strand": true,
"transcript": "ENST00000417500.5",
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},
{
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000418163.5",
"gene_hgnc_id": 38830,
"gene_symbol": "ARPC4-TTLL3",
"hgvs_c": "n.3+16C>G",
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"protein_id": "ENSP00000402163.1",
"strand": true,
"transcript": "ENST00000418163.5",
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},
{
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"cds_end": null,
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"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000424442.5",
"gene_hgnc_id": 38830,
"gene_symbol": "ARPC4-TTLL3",
"hgvs_c": "n.3+16C>G",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000412284.1",
"strand": true,
"transcript": "ENST00000424442.5",
"transcript_support_level": 5
},
{
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"biotype": "nonsense_mediated_decay",
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"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000440787.5",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "n.3+16C>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000395085.1",
"strand": true,
"transcript": "ENST00000440787.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 729,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000467289.5",
"gene_hgnc_id": 707,
"gene_symbol": "ARPC4",
"hgvs_c": "n.30+16C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000467289.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
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