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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: 2-164792667-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=164792667&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": "COBLL1",
"hgnc_id": 23571,
"hgvs_c": "c.200+7867C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001278458.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 17913,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9309,
"cdna_start": null,
"cds_end": null,
"cds_length": 3387,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365672.2",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652658.2",
"protein_coding": true,
"protein_id": "NP_001352601.1",
"strand": false,
"transcript": "NM_001365672.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9309,
"cdna_start": null,
"cds_end": null,
"cds_length": 3387,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000652658.2",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001365672.2",
"protein_coding": true,
"protein_id": "ENSP00000498242.1",
"strand": false,
"transcript": "ENST00000652658.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4725,
"cdna_start": null,
"cds_end": null,
"cds_length": 3525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409184.8",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.179+48489C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387326.5",
"strand": false,
"transcript": "ENST00000409184.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4898,
"cdna_start": null,
"cds_end": null,
"cds_length": 3501,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000342193.8",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341360.4",
"strand": false,
"transcript": "ENST00000342193.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9367,
"cdna_start": null,
"cds_end": null,
"cds_length": 3387,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000375458.6",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000364607.2",
"strand": false,
"transcript": "ENST00000375458.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 106,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 944,
"cdna_start": null,
"cds_end": null,
"cds_length": 321,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000496396.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506028.1",
"strand": false,
"transcript": "ENST00000496396.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1233,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9492,
"cdna_start": null,
"cds_end": null,
"cds_length": 3702,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278458.2",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.200+7867C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265387.1",
"strand": false,
"transcript": "NM_001278458.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1233,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": null,
"cds_end": null,
"cds_length": 3702,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000629362.2",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.200+7867C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487041.2",
"strand": false,
"transcript": "ENST00000629362.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": 1180,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4851,
"cdna_start": null,
"cds_end": null,
"cds_length": 3543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861285.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531344.1",
"strand": false,
"transcript": "ENST00000861285.1",
"transcript_support_level": null
},
{
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"aa_length": 1180,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4864,
"cdna_start": null,
"cds_end": null,
"cds_length": 3543,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946165.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000616224.1",
"strand": false,
"transcript": "ENST00000946165.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001278460.2",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.179+48489C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265389.1",
"strand": false,
"transcript": "NM_001278460.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
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"feature": "NM_001365670.2",
"gene_hgnc_id": 23571,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001352599.1",
"strand": false,
"transcript": "NM_001365670.2",
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},
{
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],
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"feature": "ENST00000861281.1",
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"protein_coding": true,
"protein_id": "ENSP00000531340.1",
"strand": false,
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000861283.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531342.1",
"strand": false,
"transcript": "ENST00000861283.1",
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},
{
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],
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"feature": "ENST00000861287.1",
"gene_hgnc_id": 23571,
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"hgvs_c": "c.41+48489C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000531346.1",
"strand": false,
"transcript": "ENST00000861287.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_014900.5",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_055715.3",
"strand": false,
"transcript": "NM_014900.5",
"transcript_support_level": null
},
{
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"canonical": false,
"cdna_end": null,
"cdna_length": 4145,
"cdna_start": null,
"cds_end": null,
"cds_length": 3486,
"cds_start": null,
"consequences": [
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],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001365671.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.179+48489C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001352600.1",
"strand": false,
"transcript": "NM_001365671.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_001365674.2",
"gene_hgnc_id": 23571,
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"protein_coding": true,
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"strand": false,
"transcript": "NM_001365674.2",
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},
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_001365675.2",
"gene_hgnc_id": 23571,
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"strand": false,
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},
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"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000861277.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
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"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531336.1",
"strand": false,
"transcript": "ENST00000861277.1",
"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": 3426,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000861280.1",
"gene_hgnc_id": 23571,
"gene_symbol": "COBLL1",
"hgvs_c": "c.41+48489C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531339.1",
"strand": false,
"transcript": "ENST00000861280.1",
"transcript_support_level": null
},
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