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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: 20-31673759-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=31673759&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 31673759,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000307677.5",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_138578.3",
"protein_id": "NP_612815.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": "ENST00000307677.5",
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "ENST00000307677.5",
"protein_id": "ENSP00000302564.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2574,
"mane_select": "NM_138578.3",
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "ENST00000376062.6",
"protein_id": "ENSP00000365230.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2578,
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.787-7673C>G",
"hgvs_p": null,
"transcript": "ENST00000450273.2",
"protein_id": "ENSP00000406203.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 307,
"cds_start": -4,
"cds_end": null,
"cds_length": 924,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1292,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001317919.2",
"protein_id": "NP_001304848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2556,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001317920.2",
"protein_id": "NP_001304849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2405,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001317921.2",
"protein_id": "NP_001304850.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2534,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001322239.2",
"protein_id": "NP_001309168.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
"cds_length": 702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2423,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001322240.2",
"protein_id": "NP_001309169.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 233,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2552,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
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"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001322242.2",
"protein_id": "NP_001309171.1",
"transcript_support_level": null,
"aa_start": null,
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"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,
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"exon_count": 3,
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"gene_symbol": "BCL2L1",
"gene_hgnc_id": 992,
"hgvs_c": "c.565-7673C>G",
"hgvs_p": null,
"transcript": "NM_001424331.1",
"protein_id": "NP_001411260.1",
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},
{
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],
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"transcript": "NM_001424332.1",
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},
{
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],
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"gene_symbol": "BCL2L1",
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"hgvs_c": "c.565-7673C>G",
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"transcript": "ENST00000420488.6",
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},
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],
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"gene_symbol": "BCL2L1",
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},
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],
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},
{
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],
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"hgvs_c": "c.565-7673C>G",
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},
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],
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"gene_symbol": "BCL2L1",
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"transcript": "ENST00000676942.1",
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],
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},
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},
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],
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"gene_symbol": "BCL2L1",
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"hgvs_c": "c.376-7673C>G",
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"transcript": "ENST00000376055.9",
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},
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],
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"gene_symbol": "BCL2L1",
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"transcript": "ENST00000422920.2",
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{
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],
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}
],
"message": null
}