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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: 7-114658653-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=114658653&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 114658653,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000350908.9",
"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": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1468+386C>T",
"hgvs_p": null,
"transcript": "NM_014491.4",
"protein_id": "NP_055306.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": "ENST00000350908.9",
"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": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1468+386C>T",
"hgvs_p": null,
"transcript": "ENST00000350908.9",
"protein_id": "ENSP00000265436.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 715,
"cds_start": -4,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": "NM_014491.4",
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1543+386C>T",
"hgvs_p": null,
"transcript": "ENST00000408937.7",
"protein_id": "ENSP00000386200.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "n.*1262+386C>T",
"hgvs_p": null,
"transcript": "ENST00000393489.8",
"protein_id": "ENSP00000377129.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2285,
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1594+386C>T",
"hgvs_p": null,
"transcript": "ENST00000703616.1",
"protein_id": "ENSP00000515400.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 757,
"cds_start": -4,
"cds_end": null,
"cds_length": 2274,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4587,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1543+386C>T",
"hgvs_p": null,
"transcript": "NM_148898.4",
"protein_id": "NP_683696.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 740,
"cds_start": -4,
"cds_end": null,
"cds_length": 2223,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6618,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1519+386C>T",
"hgvs_p": null,
"transcript": "NM_148900.4",
"protein_id": "NP_683698.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6594,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1519+386C>T",
"hgvs_p": null,
"transcript": "ENST00000403559.9",
"protein_id": "ENSP00000385069.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"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": 21,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1519+386C>T",
"hgvs_p": null,
"transcript": "ENST00000703613.1",
"protein_id": "ENSP00000515397.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 732,
"cds_start": -4,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2763,
"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,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1471+386C>T",
"hgvs_p": null,
"transcript": "ENST00000635638.1",
"protein_id": "ENSP00000489073.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 716,
"cds_start": -4,
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"cdna_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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1468+386C>T",
"hgvs_p": null,
"transcript": "ENST00000393494.6",
"protein_id": "ENSP00000377132.2",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
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"gene_symbol": "FOXP2",
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"hgvs_c": "c.1468+386C>T",
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"transcript": "ENST00000703614.1",
"protein_id": "ENSP00000515398.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 11,
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"gene_symbol": "FOXP2",
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"hgvs_c": "c.1465+386C>T",
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"transcript": "NM_001172766.3",
"protein_id": "NP_001166237.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "FOXP2",
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"hgvs_c": "c.1459+386C>T",
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"transcript": "ENST00000635534.1",
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},
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],
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"gene_symbol": "FOXP2",
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"hgvs_c": "c.1459+386C>T",
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"transcript": "ENST00000703612.1",
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},
{
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],
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"gene_symbol": "FOXP2",
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},
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],
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"hgvs_c": "c.1405+386C>T",
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},
{
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],
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"intron_rank": 12,
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"gene_symbol": "FOXP2",
"gene_hgnc_id": 13875,
"hgvs_c": "c.1408+386C>T",
"hgvs_p": null,
"transcript": "ENST00000634623.1",
"protein_id": "ENSP00000488944.1",
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],
"exon_rank": null,
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"gene_symbol": "FOXP2",
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"hgvs_c": "c.991-919C>T",
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],
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},
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],
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"gene_symbol": "FOXP2",
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"hgvs_c": "n.*1187-703C>T",
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},
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
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"hgvs_c": "n.*1468+386C>T",
"hgvs_p": null,
"transcript": "ENST00000441290.6",
"protein_id": "ENSP00000416825.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "FOXP2",
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"hgvs_c": "n.*1265+386C>T",
"hgvs_p": null,
"transcript": "ENST00000635109.1",
"protein_id": "ENSP00000489457.1",
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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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"BA1"
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"verdict": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000791500.1",
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"inheritance_mode": "",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}