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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: 2-201246297-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=201246297&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 201246297,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001228.5",
"consequences": [
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-27+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000264275.9",
"protein_id": "ENSP00000264275.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1906,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-27+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000392258.7",
"protein_id": "ENSP00000376087.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 235,
"cds_start": -4,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1060,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.250+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000471383.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 969,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-27+12185C>T",
"hgvs_p": null,
"transcript": "NM_001228.5",
"protein_id": "NP_001219.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 496,
"cds_start": -4,
"cds_end": null,
"cds_length": 1491,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2889,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-27+12185C>T",
"hgvs_p": null,
"transcript": "NM_001400648.1",
"protein_id": "NP_001387577.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2770,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-27+12185C>T",
"hgvs_p": null,
"transcript": "NM_001400651.1",
"protein_id": "NP_001387580.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2838,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-1+12185C>T",
"hgvs_p": null,
"transcript": "NM_001400657.1",
"protein_id": "NP_001387586.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2812,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-1+12185C>T",
"hgvs_p": null,
"transcript": "NM_033355.4",
"protein_id": "NP_203519.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2744,
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-1+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000432109.6",
"protein_id": "ENSP00000412523.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
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"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-1+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000440732.6",
"protein_id": "ENSP00000396869.2",
"transcript_support_level": 4,
"aa_start": null,
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"aa_length": 479,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 2,
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"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-27+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000696067.1",
"protein_id": "ENSP00000512369.1",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "CASP8",
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"transcript": "NM_001080124.2",
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},
{
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],
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"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "c.-1+12185C>T",
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"transcript": "NM_001400660.1",
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},
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],
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"gene_symbol": "CASP8",
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"hgvs_c": "c.-1+12185C>T",
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"transcript": "NM_001400661.1",
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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": "CASP8",
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"hgvs_c": "c.-27+12185C>T",
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"transcript": "ENST00000392263.6",
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},
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],
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},
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],
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"gene_symbol": "CASP8",
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"hgvs_c": "c.-5+12185C>T",
"hgvs_p": null,
"transcript": "ENST00000450491.6",
"protein_id": "ENSP00000391709.2",
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},
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],
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"gene_symbol": "CASP8",
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"hgvs_c": "c.-638+12185C>T",
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},
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],
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],
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},
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"strand": true,
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],
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.189+12185C>T",
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"transcript": "NR_174565.1",
"protein_id": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CASP8",
"gene_hgnc_id": 1509,
"hgvs_c": "n.189+12185C>T",
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"transcript": "NR_174581.1",
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},
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{
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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}
],
"message": null
}