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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: 12-75282301-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=75282301&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 75282301,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001355023.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1448T>C",
"hgvs_p": "p.Ile483Thr",
"transcript": "NM_001355024.4",
"protein_id": "NP_001341953.2",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000699294.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355024.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1448T>C",
"hgvs_p": "p.Ile483Thr",
"transcript": "ENST00000699294.1",
"protein_id": "ENSP00000514274.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001355024.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699294.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1562T>C",
"hgvs_p": "p.Ile521Thr",
"transcript": "ENST00000393284.8",
"protein_id": "ENSP00000376963.4",
"transcript_support_level": 1,
"aa_start": 521,
"aa_end": null,
"aa_length": 595,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393284.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Ile451Thr",
"transcript": "ENST00000409799.6",
"protein_id": "ENSP00000386977.2",
"transcript_support_level": 1,
"aa_start": 451,
"aa_end": null,
"aa_length": 468,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409799.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*1766T>C",
"hgvs_p": null,
"transcript": "ENST00000328705.7",
"protein_id": "ENSP00000331007.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000328705.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*638T>C",
"hgvs_p": null,
"transcript": "ENST00000336815.10",
"protein_id": "ENSP00000338474.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000336815.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.1092T>C",
"hgvs_p": null,
"transcript": "ENST00000409004.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000409004.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*1766T>C",
"hgvs_p": null,
"transcript": "ENST00000328705.7",
"protein_id": "ENSP00000331007.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000328705.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "n.*638T>C",
"hgvs_p": null,
"transcript": "ENST00000336815.10",
"protein_id": "ENSP00000338474.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000336815.10"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "NM_001355023.4",
"protein_id": "NP_001341952.2",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 563,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355023.4"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "ENST00000891117.1",
"protein_id": "ENSP00000561176.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 563,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891117.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "ENST00000912723.1",
"protein_id": "ENSP00000582784.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 563,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912723.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1466T>C",
"hgvs_p": "p.Ile489Thr",
"transcript": "ENST00000968431.1",
"protein_id": "ENSP00000638490.1",
"transcript_support_level": null,
"aa_start": 489,
"aa_end": null,
"aa_length": 563,
"cds_start": 1466,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968431.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1619T>C",
"hgvs_p": "p.Ile540Thr",
"transcript": "NM_032606.5",
"protein_id": "NP_115995.2",
"transcript_support_level": null,
"aa_start": 540,
"aa_end": null,
"aa_length": 557,
"cds_start": 1619,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032606.5"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1448T>C",
"hgvs_p": "p.Ile483Thr",
"transcript": "ENST00000891113.1",
"protein_id": "ENSP00000561172.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891113.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1448T>C",
"hgvs_p": "p.Ile483Thr",
"transcript": "ENST00000891115.1",
"protein_id": "ENSP00000561174.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891115.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1448T>C",
"hgvs_p": "p.Ile483Thr",
"transcript": "ENST00000891118.1",
"protein_id": "ENSP00000561177.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891118.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1448T>C",
"hgvs_p": "p.Ile483Thr",
"transcript": "ENST00000891121.1",
"protein_id": "ENSP00000561180.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 557,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000891121.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1562T>C",
"hgvs_p": "p.Ile521Thr",
"transcript": "ENST00000409445.8",
"protein_id": "ENSP00000386959.4",
"transcript_support_level": 2,
"aa_start": 521,
"aa_end": null,
"aa_length": 538,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409445.8"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Ile458Thr",
"transcript": "ENST00000968428.1",
"protein_id": "ENSP00000638487.1",
"transcript_support_level": null,
"aa_start": 458,
"aa_end": null,
"aa_length": 532,
"cds_start": 1373,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968428.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1361T>C",
"hgvs_p": "p.Ile454Thr",
"transcript": "NM_001355025.2",
"protein_id": "NP_001341954.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 528,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1587,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001355025.2"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAPS2",
"gene_hgnc_id": 16471,
"hgvs_c": "c.1352T>C",
"hgvs_p": "p.Ile451Thr",
"transcript": "ENST00000891116.1",
"protein_id": "ENSP00000561175.1",
"transcript_support_level": null,
"aa_start": 451,
"aa_end": null,
"aa_length": 525,
"cds_start": 1352,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
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{
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"verdict": "Likely_benign",
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{
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],
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}