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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: 16-53156115-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=53156115&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 53156115,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001308319.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001308319.2",
"protein_id": "NP_001295248.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 2897,
"cds_start": 26,
"cds_end": null,
"cds_length": 8694,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": "ENST00000447540.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308319.2"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000447540.6",
"protein_id": "ENSP00000396345.2",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 2897,
"cds_start": 26,
"cds_end": null,
"cds_length": 8694,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 11547,
"mane_select": "NM_001308319.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447540.6"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000398510.7",
"protein_id": "ENSP00000381522.3",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 2897,
"cds_start": 26,
"cds_end": null,
"cds_length": 8694,
"cdna_start": 113,
"cdna_end": null,
"cdna_length": 11337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398510.7"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000564845.5",
"protein_id": "ENSP00000455307.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 2881,
"cds_start": 26,
"cds_end": null,
"cds_length": 8646,
"cdna_start": 328,
"cdna_end": null,
"cdna_length": 11504,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564845.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000566029.5",
"protein_id": "ENSP00000457466.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 2881,
"cds_start": 26,
"cds_end": null,
"cds_length": 8646,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 13110,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566029.5"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "ENST00000565832.5",
"protein_id": "ENSP00000456793.1",
"transcript_support_level": 1,
"aa_start": 9,
"aa_end": null,
"aa_length": 631,
"cds_start": 26,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 2169,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565832.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-4871T>C",
"hgvs_p": null,
"transcript": "ENST00000615216.4",
"protein_id": "ENSP00000478361.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 963,
"cds_start": null,
"cds_end": null,
"cds_length": 2892,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10603,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615216.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_017023724.2",
"protein_id": "XP_016879213.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
"cds_end": null,
"cds_length": 7344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023724.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434699.1",
"protein_id": "XP_047290655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
"cds_end": null,
"cds_length": 7344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11730,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434699.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434700.1",
"protein_id": "XP_047290656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
"cds_end": null,
"cds_length": 7344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434700.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434701.1",
"protein_id": "XP_047290657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
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"cds_length": 7344,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434701.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434702.1",
"protein_id": "XP_047290658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
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"cds_length": 7344,
"cdna_start": null,
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"cdna_length": 12026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434702.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434703.1",
"protein_id": "XP_047290659.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434703.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
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"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434704.1",
"protein_id": "XP_047290660.1",
"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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"cdna_length": 11786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434704.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434705.1",
"protein_id": "XP_047290661.1",
"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,
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"biotype": "protein_coding",
"feature": "XM_047434705.1"
},
{
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"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
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"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434706.1",
"protein_id": "XP_047290662.1",
"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,
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"biotype": "protein_coding",
"feature": "XM_047434706.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434707.1",
"protein_id": "XP_047290663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2447,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 29123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434707.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434708.1",
"protein_id": "XP_047290664.1",
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},
{
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"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434709.1",
"protein_id": "XP_047290665.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_047434709.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.-1411T>C",
"hgvs_p": null,
"transcript": "XM_047434710.1",
"protein_id": "XP_047290666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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": "XM_047434710.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001382353.1",
"protein_id": "NP_001369282.1",
"transcript_support_level": null,
"aa_start": 9,
"aa_end": null,
"aa_length": 2897,
"cds_start": 26,
"cds_end": null,
"cds_length": 8694,
"cdna_start": 237,
"cdna_end": null,
"cdna_length": 11507,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382353.1"
},
{
"aa_ref": "F",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHD9",
"gene_hgnc_id": 25701,
"hgvs_c": "c.26T>C",
"hgvs_p": "p.Phe9Ser",
"transcript": "NM_001352127.3",
"protein_id": "NP_001339056.1",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}