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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: 10-26781676-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26781676&ref=G&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": "ABI1",
"hgnc_id": 11320,
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005470.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001012750.3",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376140.4",
"protein_coding": true,
"protein_id": "NP_001012768.1",
"strand": false,
"transcript": "NM_001012750.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 481,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": null,
"cds_end": null,
"cds_length": 1446,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376140.4",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001012750.3",
"protein_coding": true,
"protein_id": "ENSP00000365310.3",
"strand": false,
"transcript": "ENST00000376140.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 508,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3576,
"cdna_start": null,
"cds_end": null,
"cds_length": 1527,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376142.6",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365312.2",
"strand": false,
"transcript": "ENST00000376142.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 480,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3492,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000359188.8",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352114.4",
"strand": false,
"transcript": "ENST00000359188.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": null,
"cds_end": null,
"cds_length": 1431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376139.6",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365309.2",
"strand": false,
"transcript": "ENST00000376139.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 452,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": null,
"cds_end": null,
"cds_length": 1359,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376138.7",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365308.3",
"strand": false,
"transcript": "ENST00000376138.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 451,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3362,
"cdna_start": null,
"cds_end": null,
"cds_length": 1356,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376170.8",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365340.4",
"strand": false,
"transcript": "ENST00000376170.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 446,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": null,
"cds_end": null,
"cds_length": 1341,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376166.5",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365336.1",
"strand": false,
"transcript": "ENST00000376166.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 422,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": null,
"cds_end": null,
"cds_length": 1269,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000376137.9",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000365307.5",
"strand": false,
"transcript": "ENST00000376137.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 393,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3380,
"cdna_start": null,
"cds_end": null,
"cds_length": 1182,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536334.5",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439646.2",
"strand": false,
"transcript": "ENST00000536334.5",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 3596,
"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": "NM_005470.4",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_005461.2",
"strand": false,
"transcript": "NM_005470.4",
"transcript_support_level": null
},
{
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"aa_length": 507,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 12,
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"feature": "NM_001348029.2",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001334958.1",
"strand": false,
"transcript": "NM_001348029.2",
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},
{
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],
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"feature": "ENST00000869233.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539292.1",
"strand": false,
"transcript": "ENST00000869233.1",
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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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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000869252.1",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539311.1",
"strand": false,
"transcript": "ENST00000869252.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000869247.1",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539306.1",
"strand": false,
"transcript": "ENST00000869247.1",
"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": "ENST00000869246.1",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.337-4435C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539305.1",
"strand": false,
"transcript": "ENST00000869246.1",
"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,
"cds_length": 1491,
"cds_start": null,
"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178116.2",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.337-4435C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001171587.1",
"strand": false,
"transcript": "NM_001178116.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000346832.10",
"gene_hgnc_id": 11320,
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"protein_coding": true,
"protein_id": "ENSP00000279599.8",
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"transcript": "ENST00000346832.10",
"transcript_support_level": 2
},
{
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000869254.1",
"gene_hgnc_id": 11320,
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"hgvs_c": "c.337-4435C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000539313.1",
"strand": false,
"transcript": "ENST00000869254.1",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
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"exon_rank_end": null,
"feature": "ENST00000931318.1",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.337-4435C>T",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601377.1",
"strand": false,
"transcript": "ENST00000931318.1",
"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": 3512,
"cdna_start": null,
"cds_end": null,
"cds_length": 1443,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178119.2",
"gene_hgnc_id": 11320,
"gene_symbol": "ABI1",
"hgvs_c": "c.286-4435C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171590.1",
"strand": false,
"transcript": "NM_001178119.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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