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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: 22-41471373-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=41471373&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 41471373,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001098.3",
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "NM_001098.3",
"protein_id": "NP_001089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216254.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098.3"
},
{
"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": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000216254.9",
"protein_id": "ENSP00000216254.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 780,
"cds_start": null,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216254.9"
},
{
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878390.1",
"protein_id": "ENSP00000548449.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": null,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878390.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878384.1",
"protein_id": "ENSP00000548443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 807,
"cds_start": null,
"cds_end": null,
"cds_length": 2424,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878384.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000396512.3",
"protein_id": "ENSP00000379769.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396512.3"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000678269.1",
"protein_id": "ENSP00000504150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 805,
"cds_start": null,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678269.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878386.1",
"protein_id": "ENSP00000548445.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 800,
"cds_start": null,
"cds_end": null,
"cds_length": 2403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878386.1"
},
{
"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": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000923520.1",
"protein_id": "ENSP00000593579.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 799,
"cds_start": null,
"cds_end": null,
"cds_length": 2400,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923520.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.197+1865C>G",
"hgvs_p": null,
"transcript": "ENST00000677532.1",
"protein_id": "ENSP00000503471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677532.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000953703.1",
"protein_id": "ENSP00000623762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 779,
"cds_start": null,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953703.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878389.1",
"protein_id": "ENSP00000548448.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 778,
"cds_start": null,
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"cds_length": 2337,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878389.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "ACO2",
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"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000953708.1",
"protein_id": "ENSP00000623767.1",
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"aa_start": null,
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"aa_length": 778,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000953708.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000953707.1",
"protein_id": "ENSP00000623766.1",
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"aa_start": null,
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"aa_length": 777,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000953707.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
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"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
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"transcript": "ENST00000678788.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878387.1",
"protein_id": "ENSP00000548446.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878387.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.80+1865C>G",
"hgvs_p": null,
"transcript": "ENST00000953709.1",
"protein_id": "ENSP00000623768.1",
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"biotype": "protein_coding",
"feature": "ENST00000953709.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.-64+23341C>G",
"hgvs_p": null,
"transcript": "ENST00000676748.1",
"protein_id": "ENSP00000503371.1",
"transcript_support_level": null,
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"aa_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676748.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.-279+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000677153.1",
"protein_id": "ENSP00000504453.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
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"gene_symbol": "ACO2",
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"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878391.1",
"protein_id": "ENSP00000548450.1",
"transcript_support_level": null,
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"feature": "ENST00000878391.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
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"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000953710.1",
"protein_id": "ENSP00000623769.1",
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"feature": "ENST00000953710.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
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"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000953705.1",
"protein_id": "ENSP00000623764.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 741,
"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953705.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ACO2",
"gene_hgnc_id": 118,
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null,
"transcript": "ENST00000878388.1",
"protein_id": "ENSP00000548447.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878388.1"
},
{
"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": 1,
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],
"verdict": "Likely_benign",
"transcript": "NM_001098.3",
"gene_symbol": "ACO2",
"hgnc_id": 118,
"effects": [
"intron_variant"
],
"inheritance_mode": "Unknown,AR,AD",
"hgvs_c": "c.36+2191C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}