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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: 2-231327593-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=231327593&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ARMC9",
"hgnc_id": 20730,
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001271466.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 30,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.95,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.949999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7879,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001352754.2",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000611582.5",
"protein_coding": true,
"protein_id": "NP_001339683.2",
"strand": true,
"transcript": "NM_001352754.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7879,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000611582.5",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001352754.2",
"protein_coding": true,
"protein_id": "ENSP00000484804.1",
"strand": true,
"transcript": "ENST00000611582.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 665,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": null,
"cds_end": null,
"cds_length": 1998,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000349938.8",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000258417.5",
"strand": true,
"transcript": "ENST00000349938.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 856,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3330,
"cdna_start": null,
"cds_end": null,
"cds_length": 2571,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958134.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628193.1",
"strand": true,
"transcript": "ENST00000958134.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 855,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5682,
"cdna_start": null,
"cds_end": null,
"cds_length": 2568,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958131.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628190.1",
"strand": true,
"transcript": "ENST00000958131.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8122,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271466.4",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258395.2",
"strand": true,
"transcript": "NM_001271466.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5088,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909244.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579303.1",
"strand": true,
"transcript": "ENST00000909244.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3902,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909246.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579305.1",
"strand": true,
"transcript": "ENST00000909246.1",
"transcript_support_level": null
},
{
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"aa_length": 818,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": null,
"cds_end": null,
"cds_length": 2457,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958133.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628192.1",
"strand": true,
"transcript": "ENST00000958133.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4939,
"cdna_start": null,
"cds_end": null,
"cds_length": 2454,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000909243.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579302.1",
"strand": true,
"transcript": "ENST00000909243.1",
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},
{
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"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000909245.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000579304.1",
"strand": true,
"transcript": "ENST00000909245.1",
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},
{
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"biotype": "protein_coding",
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"feature": "ENST00000915562.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000585621.1",
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},
{
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],
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"feature": "ENST00000958132.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628191.1",
"strand": true,
"transcript": "ENST00000958132.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 24,
"exon_rank": null,
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"feature": "ENST00000958135.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1648-4200C>G",
"hgvs_p": null,
"intron_rank": 18,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628194.1",
"strand": true,
"transcript": "ENST00000958135.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000683275.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1909-4200C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000506823.1",
"strand": true,
"transcript": "ENST00000683275.1",
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},
{
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"biotype": "protein_coding",
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"cds_length": 2019,
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"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "ENST00000683112.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1795-4200C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507357.1",
"strand": true,
"transcript": "ENST00000683112.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1998,
"cds_start": null,
"consequences": [
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],
"exon_count": 21,
"exon_rank": null,
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"feature": "NM_001291656.2",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001278585.2",
"strand": true,
"transcript": "NM_001291656.2",
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},
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"consequences": [
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],
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"feature": "NM_001352755.2",
"gene_hgnc_id": 20730,
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"hgvs_c": "c.1774-4200C>G",
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"mane_plus": null,
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"strand": true,
"transcript": "NM_001352755.2",
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},
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],
"exon_count": 21,
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"feature": "NM_001352756.2",
"gene_hgnc_id": 20730,
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001352756.2",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_025139.6",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_079415.4",
"strand": true,
"transcript": "NM_025139.6",
"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": 1998,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683575.1",
"gene_hgnc_id": 20730,
"gene_symbol": "ARMC9",
"hgvs_c": "c.1774-4200C>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507743.1",
"strand": true,
"transcript": "ENST00000683575.1",
"transcript_support_level": null
},
{
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