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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: 12-8936676-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=8936676&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 8936676,
"ref": "A",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000544916.6",
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2369-180A>T",
"hgvs_p": null,
"transcript": "NM_004426.3",
"protein_id": "NP_004417.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": "ENST00000544916.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2369-180A>T",
"hgvs_p": null,
"transcript": "ENST00000544916.6",
"protein_id": "ENSP00000437659.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": "NM_004426.3",
"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": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2369-180A>T",
"hgvs_p": null,
"transcript": "ENST00000543824.5",
"protein_id": "ENSP00000440674.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4292,
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2234-180A>T",
"hgvs_p": null,
"transcript": "ENST00000433083.6",
"protein_id": "ENSP00000399194.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5033,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "n.*1219-180A>T",
"hgvs_p": null,
"transcript": "ENST00000540574.5",
"protein_id": "ENSP00000444308.1",
"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": 3869,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2369-180A>T",
"hgvs_p": null,
"transcript": "NM_001413738.1",
"protein_id": "NP_001400667.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5179,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2363-180A>T",
"hgvs_p": null,
"transcript": "NM_001413739.1",
"protein_id": "NP_001400668.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1002,
"cds_start": -4,
"cds_end": null,
"cds_length": 3009,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5384,
"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": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2345-180A>T",
"hgvs_p": null,
"transcript": "NM_001413740.1",
"protein_id": "NP_001400669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 996,
"cds_start": -4,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5366,
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2258-180A>T",
"hgvs_p": null,
"transcript": "NM_001413741.1",
"protein_id": "NP_001400670.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 967,
"cds_start": -4,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5279,
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2213-180A>T",
"hgvs_p": null,
"transcript": "NM_001413742.1",
"protein_id": "NP_001400671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
"cds_end": null,
"cds_length": 2859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5023,
"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": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.2213-180A>T",
"hgvs_p": null,
"transcript": "NM_001413743.1",
"protein_id": "NP_001400672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 952,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5234,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1994-180A>T",
"hgvs_p": null,
"transcript": "NM_001413744.1",
"protein_id": "NP_001400673.1",
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1946-180A>T",
"hgvs_p": null,
"transcript": "NM_001413745.1",
"protein_id": "NP_001400674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 863,
"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1928-180A>T",
"hgvs_p": null,
"transcript": "NM_001413746.1",
"protein_id": "NP_001400675.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1850-180A>T",
"hgvs_p": null,
"transcript": "NM_001413747.1",
"protein_id": "NP_001400676.1",
"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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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1832-180A>T",
"hgvs_p": null,
"transcript": "NM_001413748.1",
"protein_id": "NP_001400677.1",
"transcript_support_level": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "PHC1",
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"hgvs_c": "c.1832-180A>T",
"hgvs_p": null,
"transcript": "NM_001413749.1",
"protein_id": "NP_001400678.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1826-180A>T",
"hgvs_p": null,
"transcript": "NM_001413750.1",
"protein_id": "NP_001400679.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 11,
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"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1808-180A>T",
"hgvs_p": null,
"transcript": "NM_001413751.1",
"protein_id": "NP_001400680.1",
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},
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],
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"gene_symbol": "PHC1",
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"hgvs_c": "c.1808-180A>T",
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},
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],
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"gene_symbol": "PHC1",
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"hgvs_c": "c.1700-180A>T",
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"transcript": "NM_001413753.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.1682-180A>T",
"hgvs_p": null,
"transcript": "NM_001413754.1",
"protein_id": "NP_001400683.1",
"transcript_support_level": 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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHC1",
"gene_hgnc_id": 3182,
"hgvs_c": "c.284-3195A>T",
"hgvs_p": null,
"transcript": "ENST00000542346.1",
"protein_id": "ENSP00000446388.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 99,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
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}