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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: 1-94451846-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=94451846&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 94451846,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_002858.4",
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "NM_002858.4",
"protein_id": "NP_002849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": null,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370214.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002858.4"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000370214.9",
"protein_id": "ENSP00000359233.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": null,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002858.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370214.9"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000315713.5",
"protein_id": "ENSP00000326880.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315713.5"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-3887T>A",
"hgvs_p": null,
"transcript": "ENST00000866889.1",
"protein_id": "ENSP00000536948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866889.1"
},
{
"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": 24,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-3887T>A",
"hgvs_p": null,
"transcript": "ENST00000966694.1",
"protein_id": "ENSP00000636753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 683,
"cds_start": null,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966694.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000866893.1",
"protein_id": "ENSP00000536952.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 673,
"cds_start": null,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866893.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6734T>A",
"hgvs_p": null,
"transcript": "ENST00000966696.1",
"protein_id": "ENSP00000636755.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": null,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966696.1"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000647998.2",
"protein_id": "ENSP00000497921.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 659,
"cds_start": null,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647998.2"
},
{
"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": 23,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000866897.1",
"protein_id": "ENSP00000536956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 656,
"cds_start": null,
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"cds_length": 1971,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866897.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000966700.1",
"protein_id": "ENSP00000636759.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 640,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000966700.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
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"gene_symbol": "ABCD3",
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"hgvs_c": "c.111-6761T>A",
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"transcript": "ENST00000866894.1",
"protein_id": "ENSP00000536953.1",
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},
{
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],
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},
{
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"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "ABCD3",
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"hgvs_c": "c.111-6761T>A",
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"transcript": "ENST00000966693.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "ABCD3",
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},
{
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"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "ABCD3",
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"hgvs_c": "c.111-3887T>A",
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"transcript": "ENST00000966695.1",
"protein_id": "ENSP00000636754.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ABCD3",
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},
{
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "ABCD3",
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"hgvs_c": "c.111-6761T>A",
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"transcript": "ENST00000866892.1",
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},
{
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],
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"intron_rank": 1,
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"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.111-6761T>A",
"hgvs_p": null,
"transcript": "ENST00000966697.1",
"protein_id": "ENSP00000636756.1",
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "ABCD3",
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"hgvs_c": "c.111-6761T>A",
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},
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],
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"intron_rank": 1,
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},
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],
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"biotype": "protein_coding",
"feature": "ENST00000966692.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ABCD3",
"gene_hgnc_id": 67,
"hgvs_c": "c.110+33258T>A",
"hgvs_p": null,
"transcript": "ENST00000866898.1",
"protein_id": "ENSP00000536957.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866898.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
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}