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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: 1-247418307-C-CTTTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=247418307&ref=C&alt=CTTTT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 247418307,
"ref": "C",
"alt": "CTTTT",
"effect": "5_prime_UTR_variant",
"transcript": "NM_001243133.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "NM_001243133.2",
"protein_id": "NP_001230062.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": "ENST00000336119.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000336119.8",
"protein_id": "ENSP00000337383.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": "NM_001243133.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000366496.7",
"protein_id": "ENSP00000355452.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000391827.3",
"protein_id": "ENSP00000375703.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000348069.7",
"protein_id": "ENSP00000294752.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 920,
"cds_start": -4,
"cds_end": null,
"cds_length": 2763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3824,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-45+26_-45+29dupTTTT",
"hgvs_p": null,
"transcript": "ENST00000391828.8",
"protein_id": "ENSP00000375704.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-479_-476dupTTTT",
"hgvs_p": null,
"transcript": "NM_004895.5",
"protein_id": "NP_004886.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1036,
"cds_start": -4,
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"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "NM_001127461.3",
"protein_id": "NP_001120933.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "NM_001127462.3",
"protein_id": "NP_001120934.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "NLRP3",
"gene_hgnc_id": 16400,
"hgvs_c": "c.-485_-482dupTTTT",
"hgvs_p": null,
"transcript": "NM_183395.3",
"protein_id": "NP_899632.2",
"transcript_support_level": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "NLRP3",
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"hgvs_c": "c.-479_-476dupTTTT",
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"transcript": "XM_047443534.1",
"protein_id": "XP_047299490.1",
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},
{
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],
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"gene_symbol": "NLRP3",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "NLRP3",
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},
{
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],
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"gene_symbol": "NLRP3",
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},
{
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],
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"gene_symbol": "NLRP3",
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"hgvs_c": "c.-479_-476dupTTTT",
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"transcript": "XM_024452874.2",
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},
{
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "NLRP3",
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"hgvs_c": "c.-45+26_-45+29dupTTTT",
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"transcript": "NM_001079821.3",
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},
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],
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"intron_rank": 1,
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"gene_symbol": "NLRP3",
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"hgvs_c": "c.-45+26_-45+29dupTTTT",
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"transcript": "ENST00000697350.1",
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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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"consequences": [
"intron_variant"
],
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"gene_symbol": "NLRP3",
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"hgvs_c": "c.-39+26_-39+29dupTTTT",
"hgvs_p": null,
"transcript": "XM_047443533.1",
"protein_id": "XP_047299489.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "NLRP3",
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"hgvs_c": "c.-94+26_-94+29dupTTTT",
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"transcript": "XM_047443539.1",
"protein_id": "XP_047299495.1",
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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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
}