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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: 19-11173352-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11173352&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11173352,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000586659.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2069-229A>G",
"hgvs_p": null,
"transcript": "NM_001136191.3",
"protein_id": "NP_001129663.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "ENST00000586659.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2069-229A>G",
"hgvs_p": null,
"transcript": "ENST00000586659.6",
"protein_id": "ENSP00000465650.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 851,
"cds_start": -4,
"cds_end": null,
"cds_length": 2556,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": "NM_001136191.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379548.1",
"protein_id": "NP_001366477.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5273,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379549.1",
"protein_id": "NP_001366478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379550.1",
"protein_id": "NP_001366479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379551.1",
"protein_id": "NP_001366480.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379552.1",
"protein_id": "NP_001366481.1",
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"aa_start": null,
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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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379553.1",
"protein_id": "NP_001366482.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 859,
"cds_start": -4,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
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"cdna_length": 5344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "KANK2",
"gene_hgnc_id": 29300,
"hgvs_c": "c.2093-229A>G",
"hgvs_p": null,
"transcript": "NM_001379554.1",
"protein_id": "NP_001366483.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"intron_variant"
],
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"gene_symbol": "KANK2",
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"hgvs_c": "c.2093-229A>G",
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"transcript": "NM_015493.7",
"protein_id": "NP_056308.3",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "KANK2",
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"hgvs_c": "c.2093-229A>G",
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"transcript": "ENST00000589359.5",
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},
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],
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],
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],
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],
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}