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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: 7-51051656-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=51051656&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 51051656,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000265136.12",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1097-7964G>T",
"hgvs_p": null,
"transcript": "NM_015198.5",
"protein_id": "NP_056013.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": -4,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "ENST00000265136.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1097-7964G>T",
"hgvs_p": null,
"transcript": "ENST00000265136.12",
"protein_id": "ENSP00000265136.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": -4,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5301,
"mane_select": "NM_015198.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1343-7964G>T",
"hgvs_p": null,
"transcript": "ENST00000431948.6",
"protein_id": "ENSP00000413498.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1268-7964G>T",
"hgvs_p": null,
"transcript": "ENST00000395542.6",
"protein_id": "ENSP00000378912.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1271,
"cds_start": -4,
"cds_end": null,
"cds_length": 3816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.773-7964G>T",
"hgvs_p": null,
"transcript": "ENST00000445054.5",
"protein_id": "ENSP00000401204.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1106,
"cds_start": -4,
"cds_end": null,
"cds_length": 3321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1343-7964G>T",
"hgvs_p": null,
"transcript": "NM_001410881.1",
"protein_id": "NP_001397810.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1343,
"cds_start": -4,
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"cds_length": 4032,
"cdna_start": null,
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"cdna_length": 5547,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1268-7964G>T",
"hgvs_p": null,
"transcript": "NM_001287436.3",
"protein_id": "NP_001274365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1268-7964G>T",
"hgvs_p": null,
"transcript": "NM_001346441.2",
"protein_id": "NP_001333370.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": -4,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "COBL",
"gene_hgnc_id": 22199,
"hgvs_c": "c.1097-7964G>T",
"hgvs_p": null,
"transcript": "NM_001346442.2",
"protein_id": "NP_001333371.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1214,
"cds_start": -4,
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"cds_length": 3645,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "COBL",
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"hgvs_c": "c.1097-7964G>T",
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"transcript": "NM_001346443.2",
"protein_id": "NP_001333372.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "COBL",
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"hgvs_c": "n.1023-7964G>T",
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"transcript": "ENST00000452534.5",
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},
{
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],
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},
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],
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],
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],
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],
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},
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],
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"hgvs_c": "c.1172-7964G>T",
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"transcript": "XM_047420077.1",
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],
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"gene_symbol": "COBL",
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"transcript": "XM_047420079.1",
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},
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],
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"hgvs_c": "c.1217-7964G>T",
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{
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],
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"splice_prediction_selected": "Benign",
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}