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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: 1-211981666-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=211981666&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "INTS7",
"hgnc_id": 24484,
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_015434.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1,BS2",
"acmg_score": -12,
"allele_count_reference_population": 3932,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 962,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": null,
"cds_end": null,
"cds_length": 2889,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015434.4",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366994.8",
"protein_coding": true,
"protein_id": "NP_056249.1",
"strand": false,
"transcript": "NM_015434.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 962,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4430,
"cdna_start": null,
"cds_end": null,
"cds_length": 2889,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366994.8",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015434.4",
"protein_coding": true,
"protein_id": "ENSP00000355961.3",
"strand": false,
"transcript": "ENST00000366994.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 948,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3422,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000366993.7",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355960.3",
"strand": false,
"transcript": "ENST00000366993.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4447,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000469606.5",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "n.*903-476A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000481687.1",
"strand": false,
"transcript": "ENST00000469606.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1004,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4536,
"cdna_start": null,
"cds_end": null,
"cds_length": 3015,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917899.1",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1259-476A>G",
"hgvs_p": null,
"intron_rank": 10,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587958.1",
"strand": false,
"transcript": "ENST00000917899.1",
"transcript_support_level": null
},
{
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"aa_length": 998,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4527,
"cdna_start": null,
"cds_end": null,
"cds_length": 2997,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871698.1",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541757.1",
"strand": false,
"transcript": "ENST00000871698.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 978,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": null,
"cds_end": null,
"cds_length": 2937,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871700.1",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541759.1",
"strand": false,
"transcript": "ENST00000871700.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 950,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3081,
"cdna_start": null,
"cds_end": null,
"cds_length": 2853,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917902.1",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587961.1",
"strand": false,
"transcript": "ENST00000917902.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4388,
"cdna_start": null,
"cds_end": null,
"cds_length": 2847,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001199811.2",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001186740.1",
"strand": false,
"transcript": "NM_001199811.2",
"transcript_support_level": null
},
{
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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": 20,
"exon_rank": null,
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"feature": "ENST00000917900.1",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
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"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000587959.1",
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"transcript": "ENST00000917900.1",
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},
{
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],
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"feature": "NM_001199812.2",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001186741.1",
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},
{
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"feature": "ENST00000366992.7",
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"protein_coding": true,
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},
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},
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"consequences": [
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],
"exon_count": 19,
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"feature": "ENST00000917901.1",
"gene_hgnc_id": 24484,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000587960.1",
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},
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],
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"feature": "NM_001199809.2",
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"protein_coding": true,
"protein_id": "NP_001186738.1",
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},
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],
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"feature": "ENST00000440600.6",
"gene_hgnc_id": 24484,
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"hgvs_c": "c.986-476A>G",
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"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000388908.2",
"strand": false,
"transcript": "ENST00000440600.6",
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},
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],
"exon_count": 19,
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"feature": "ENST00000871699.1",
"gene_hgnc_id": 24484,
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],
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"feature": "ENST00000917903.1",
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},
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"consequences": [
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],
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"feature": "XM_047417179.1",
"gene_hgnc_id": 24484,
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"hgvs_c": "c.1133-476A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047273135.1",
"strand": false,
"transcript": "XM_047417179.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
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"feature": "XM_017000962.2",
"gene_hgnc_id": 24484,
"gene_symbol": "INTS7",
"hgvs_c": "c.1133-476A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "XM_017000962.2",
"transcript_support_level": null
},
{
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