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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: 2-29160508-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=29160508&ref=G&alt=C&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "2",
"pos": 29160508,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000320081.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "NM_024692.6",
"protein_id": "NP_078968.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": "ENST00000320081.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000320081.10",
"protein_id": "ENSP00000327009.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4299,
"mane_select": "NM_024692.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1555+41G>C",
"hgvs_p": null,
"transcript": "ENST00000687506.1",
"protein_id": "ENSP00000509486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "NM_001287527.2",
"protein_id": "NP_001274456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000404424.5",
"protein_id": "ENSP00000385594.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000690063.1",
"protein_id": "ENSP00000508552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4144,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000693264.1",
"protein_id": "ENSP00000509159.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 705,
"cds_start": -4,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000689605.1",
"protein_id": "ENSP00000508948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4963,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1399+3161G>C",
"hgvs_p": null,
"transcript": "ENST00000689017.1",
"protein_id": "ENSP00000510497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 660,
"cds_start": -4,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1454+3106G>C",
"hgvs_p": null,
"transcript": "ENST00000687450.1",
"protein_id": "ENSP00000508879.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
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"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000691129.1",
"protein_id": "ENSP00000510138.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 629,
"cds_start": -4,
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"cds_length": 1890,
"cdna_start": null,
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"cdna_length": 4236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 12,
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"gene_symbol": "CLIP4",
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"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "ENST00000686848.1",
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"aa_start": null,
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"aa_length": 618,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4192,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "NM_001287528.2",
"protein_id": "NP_001274457.1",
"transcript_support_level": null,
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"cds_start": -4,
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{
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
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"gene_symbol": "CLIP4",
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"hgvs_c": "c.1534+41G>C",
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"transcript": "ENST00000401605.5",
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},
{
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"strand": true,
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],
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"gene_symbol": "CLIP4",
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"hgvs_c": "c.1213+41G>C",
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"transcript": "ENST00000691796.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1534+41G>C",
"hgvs_p": null,
"transcript": "NM_001410747.1",
"protein_id": "NP_001397676.1",
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{
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],
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"gene_symbol": "CLIP4",
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"hgvs_c": "c.1534+41G>C",
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"transcript": "ENST00000689070.1",
"protein_id": "ENSP00000509643.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "c.1213+41G>C",
"hgvs_p": null,
"transcript": "ENST00000401617.6",
"protein_id": "ENSP00000385148.2",
"transcript_support_level": 5,
"aa_start": null,
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},
{
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"strand": true,
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"gene_symbol": "CLIP4",
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"hgvs_c": "c.1123+41G>C",
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"transcript": "ENST00000687104.1",
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{
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],
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"gene_symbol": "CLIP4",
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{
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],
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"intron_rank": 12,
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"gene_symbol": "CLIP4",
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"transcript": "ENST00000415891.5",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "n.*1201+41G>C",
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"transcript": "ENST00000456385.5",
"protein_id": "ENSP00000399029.1",
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "CLIP4",
"gene_hgnc_id": 26108,
"hgvs_c": "n.1731+41G>C",
"hgvs_p": null,
"transcript": "ENST00000493551.2",
"protein_id": null,
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{
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],
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000320081.10",
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"effects": [
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}