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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: 14-103714398-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=103714398&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": "XRCC3",
"hgnc_id": 12830,
"hgvs_c": "c.-318+1026C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_005432.4",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "KLC1",
"hgnc_id": 6387,
"hgvs_c": "c.*13199G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "ENST00000348520.10",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 42688,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.9,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8999999761581421,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_005432.4",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-318+1026C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000555055.6",
"protein_coding": true,
"protein_id": "NP_005423.1",
"strand": false,
"transcript": "NM_005432.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000555055.6",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-318+1026C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005432.4",
"protein_coding": true,
"protein_id": "ENSP00000452598.1",
"strand": false,
"transcript": "ENST00000555055.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2563,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000352127.11",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-261+1026C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343392.7",
"strand": false,
"transcript": "ENST00000352127.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4048,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881949.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-1719C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552008.1",
"strand": false,
"transcript": "ENST00000881949.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4097,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881950.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-1784C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552009.1",
"strand": false,
"transcript": "ENST00000881950.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920672.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-846C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590731.1",
"strand": false,
"transcript": "ENST00000920672.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3872,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920683.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-627C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590742.1",
"strand": false,
"transcript": "ENST00000920683.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3732,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000920689.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-556C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590748.1",
"strand": false,
"transcript": "ENST00000920689.1",
"transcript_support_level": null
},
{
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"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5613,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000950264.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-3311C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620323.1",
"strand": false,
"transcript": "ENST00000950264.1",
"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": 4048,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000881949.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-1719C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552008.1",
"strand": false,
"transcript": "ENST00000881949.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_length": 4097,
"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 9,
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"exon_rank_end": null,
"feature": "ENST00000881950.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
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"transcript": "ENST00000881950.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000920672.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
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"mane_plus": null,
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},
{
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"consequences": [
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],
"exon_count": 10,
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"exon_rank_end": null,
"feature": "ENST00000920683.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-627C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590742.1",
"strand": false,
"transcript": "ENST00000920683.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000920689.1",
"gene_hgnc_id": 12830,
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"hgvs_c": "c.-556C>T",
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"mane_plus": null,
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000950264.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-3311C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000620323.1",
"strand": false,
"transcript": "ENST00000950264.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001100118.2",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-261+1026C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093588.1",
"strand": false,
"transcript": "NM_001100118.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "NM_001100119.2",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
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"protein_id": "NP_001093589.1",
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},
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"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001371229.1",
"gene_hgnc_id": 12830,
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"protein_coding": true,
"protein_id": "NP_001358158.1",
"strand": false,
"transcript": "NM_001371229.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 10,
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"feature": "NM_001371231.1",
"gene_hgnc_id": 12830,
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358160.1",
"strand": false,
"transcript": "NM_001371231.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1041,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001371232.1",
"gene_hgnc_id": 12830,
"gene_symbol": "XRCC3",
"hgvs_c": "c.-290+1026C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001358161.1",
"strand": false,
"transcript": "NM_001371232.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"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": "ENST00000554913.5",
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