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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: 1-113905154-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113905154&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 113905154,
"ref": "C",
"alt": "A",
"effect": "non_coding_transcript_exon_variant",
"transcript": "ENST00000713648.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000713646.1",
"protein_id": "ENSP00000518948.1",
"transcript_support_level": null,
"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": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000713647.1",
"protein_id": "ENSP00000518949.1",
"transcript_support_level": null,
"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": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000713648.1",
"protein_id": "ENSP00000518950.1",
"transcript_support_level": null,
"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": 2860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000369564.6",
"protein_id": "ENSP00000358577.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 664,
"cds_start": -4,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2648,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000713646.1",
"protein_id": "ENSP00000518948.1",
"transcript_support_level": null,
"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": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000713647.1",
"protein_id": "ENSP00000518949.1",
"transcript_support_level": null,
"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": 2935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "n.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000713648.1",
"protein_id": "ENSP00000518950.1",
"transcript_support_level": null,
"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": 2860,
"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": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-76-361G>T",
"hgvs_p": null,
"transcript": "ENST00000713590.1",
"protein_id": "ENSP00000518886.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 739,
"cds_start": -4,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2743,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-330-315C>A",
"hgvs_p": null,
"transcript": "NM_001319947.2",
"protein_id": "NP_001306876.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 406,
"cds_start": -4,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3536,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "n.91-315C>A",
"hgvs_p": null,
"transcript": "ENST00000697125.1",
"protein_id": null,
"transcript_support_level": null,
"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": 569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-433C>A",
"hgvs_p": null,
"transcript": "NM_022836.4",
"protein_id": "NP_073747.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 532,
"cds_start": -4,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3755,
"mane_select": "ENST00000650450.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCLRE1B",
"gene_hgnc_id": 17641,
"hgvs_c": "c.-433C>A",
"hgvs_p": null,
"transcript": "ENST00000650450.2",
"protein_id": "ENSP00000498042.1",
"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": "NM_022836.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-289G>T",
"hgvs_p": null,
"transcript": "ENST00000256658.8",
"protein_id": "ENSP00000256658.4",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 739,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-310G>T",
"hgvs_p": null,
"transcript": "NM_001438373.1",
"protein_id": "NP_001425302.1",
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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": 11,
"intron_rank": null,
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"gene_symbol": "AP4B1",
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"hgvs_c": "c.-289G>T",
"hgvs_p": null,
"transcript": "NM_006594.5",
"protein_id": "NP_006585.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-310G>T",
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"transcript": "ENST00000369571.3",
"protein_id": "ENSP00000358584.3",
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},
{
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "AP4B1",
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"hgvs_c": "c.-199G>T",
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"transcript": "ENST00000713645.1",
"protein_id": "ENSP00000518947.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-289G>T",
"hgvs_p": null,
"transcript": "NM_001437822.1",
"protein_id": "NP_001424751.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-289G>T",
"hgvs_p": null,
"transcript": "NM_001438374.1",
"protein_id": "NP_001425303.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": null,
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"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-458G>T",
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"transcript": "NM_001253853.3",
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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": 9,
"intron_rank": null,
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"gene_symbol": "AP4B1",
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"hgvs_c": "c.-289G>T",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-289G>T",
"hgvs_p": null,
"transcript": "NM_001438376.1",
"protein_id": "NP_001425305.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 571,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2750,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4B1",
"gene_hgnc_id": 572,
"hgvs_c": "c.-437G>T",
"hgvs_p": null,
"transcript": "ENST00000369567.6",
"protein_id": "ENSP00000358580.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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{
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}
],
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}