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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: 6-43517545-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=43517545&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 14,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "POLR1C",
"hgnc_id": 20194,
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -14,
"transcript": "NM_203290.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_score": -14,
"allele_count_reference_population": 27019,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "6",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"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": 1275,
"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": "NM_203290.4",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642195.1",
"protein_coding": true,
"protein_id": "NP_976035.1",
"strand": true,
"transcript": "NM_203290.4",
"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": 1275,
"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": "ENST00000642195.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_203290.4",
"protein_coding": true,
"protein_id": "ENSP00000496044.1",
"strand": true,
"transcript": "ENST00000642195.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 342,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1280,
"cdna_start": null,
"cds_end": null,
"cds_length": 1029,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000304004.7",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000307212.3",
"strand": true,
"transcript": "ENST00000304004.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 353,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": null,
"cds_end": null,
"cds_length": 1062,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945270.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615329.1",
"strand": true,
"transcript": "ENST00000945270.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 346,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1416,
"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": "ENST00000908069.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578128.1",
"strand": true,
"transcript": "ENST00000908069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1308,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000908070.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578129.1",
"strand": true,
"transcript": "ENST00000908070.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 345,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1312,
"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930067.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600126.1",
"strand": true,
"transcript": "ENST00000930067.1",
"transcript_support_level": null
},
{
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"aa_length": 343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1786,
"cdna_start": null,
"cds_end": null,
"cds_length": 1032,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000646433.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000494368.1",
"strand": true,
"transcript": "ENST00000646433.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
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"feature": "ENST00000930069.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000600128.1",
"strand": true,
"transcript": "ENST00000930069.1",
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},
{
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"consequences": [
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],
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"feature": "NM_001318876.2",
"gene_hgnc_id": 20194,
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},
{
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],
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"feature": "ENST00000607635.2",
"gene_hgnc_id": 20194,
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},
{
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},
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},
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"feature": "NM_001363658.2",
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},
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},
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],
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"feature": "ENST00000372344.6",
"gene_hgnc_id": 20194,
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"protein_coding": true,
"protein_id": "ENSP00000361419.2",
"strand": true,
"transcript": "ENST00000372344.6",
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},
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],
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"feature": "ENST00000643799.1",
"gene_hgnc_id": 20194,
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"feature": "ENST00000930068.1",
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},
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],
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},
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],
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"feature": "ENST00000646188.1",
"gene_hgnc_id": 20194,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000496001.1",
"strand": true,
"transcript": "ENST00000646188.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000930072.1",
"gene_hgnc_id": 20194,
"gene_symbol": "POLR1C",
"hgvs_c": "c.141+168C>T",
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"mane_plus": null,
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"protein_coding": true,
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"transcript": "ENST00000930072.1",
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},
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