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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: 3-142088295-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=142088295&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 142088295,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000489671.6",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.82+4766G>T",
"hgvs_p": null,
"transcript": "NM_001178139.2",
"protein_id": "NP_001171610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9880,
"mane_select": "ENST00000489671.6",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.82+4766G>T",
"hgvs_p": null,
"transcript": "ENST00000489671.6",
"protein_id": "ENSP00000420616.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9880,
"mane_select": "NM_001178139.2",
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.-137+4766G>T",
"hgvs_p": null,
"transcript": "ENST00000467072.5",
"protein_id": "ENSP00000418590.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1853,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.-102+13440G>T",
"hgvs_p": null,
"transcript": "ENST00000494358.5",
"protein_id": "ENSP00000420657.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 26,
"cds_start": -4,
"cds_end": null,
"cds_length": 82,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 578,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.82+4766G>T",
"hgvs_p": null,
"transcript": "NM_001375773.1",
"protein_id": "NP_001362702.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9883,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.-88+4766G>T",
"hgvs_p": null,
"transcript": "NM_001375775.1",
"protein_id": "NP_001362704.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 424,
"cds_start": -4,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
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"cdna_length": 9983,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.-137+4766G>T",
"hgvs_p": null,
"transcript": "NM_001178138.2",
"protein_id": "NP_001171609.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.-326+4766G>T",
"hgvs_p": null,
"transcript": "NM_001375776.1",
"protein_id": "NP_001362705.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 386,
"cds_start": -4,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP2",
"gene_hgnc_id": 11751,
"hgvs_c": "c.-137+4766G>T",
"hgvs_p": null,
"transcript": "NM_001375778.1",
"protein_id": "NP_001362707.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 385,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"consequences": [
"intron_variant"
],
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"gene_symbol": "TFDP2",
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"hgvs_c": "c.-88+4766G>T",
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"transcript": "NM_001375780.1",
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "TFDP2",
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"hgvs_c": "c.-102+2497G>T",
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"transcript": "ENST00000488107.6",
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},
{
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],
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],
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],
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},
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],
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],
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},
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],
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}
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}