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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: 12-88129046-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=88129046&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 88129046,
"ref": "A",
"alt": "AT",
"effect": "intron_variant",
"transcript": "NM_025114.4",
"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": 54,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.853-12_853-11insA",
"hgvs_p": null,
"transcript": "NM_025114.4",
"protein_id": "NP_079390.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2479,
"cds_start": -4,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7824,
"mane_select": "ENST00000552810.6",
"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": 54,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.853-12_853-11insA",
"hgvs_p": null,
"transcript": "ENST00000552810.6",
"protein_id": "ENSP00000448012.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2479,
"cds_start": -4,
"cds_end": null,
"cds_length": 7440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7824,
"mane_select": "NM_025114.4",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.19-12_19-11insA",
"hgvs_p": null,
"transcript": "ENST00000604024.5",
"protein_id": "ENSP00000473863.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": -4,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "n.853-12_853-11insA",
"hgvs_p": null,
"transcript": "ENST00000547926.7",
"protein_id": "ENSP00000448573.3",
"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": 2435,
"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": 56,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.853-12_853-11insA",
"hgvs_p": null,
"transcript": "ENST00000675476.1",
"protein_id": "ENSP00000502161.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2766,
"cds_start": -4,
"cds_end": null,
"cds_length": 8301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8696,
"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": 55,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.853-12_853-11insA",
"hgvs_p": null,
"transcript": "ENST00000675833.1",
"protein_id": "ENSP00000502559.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2735,
"cds_start": -4,
"cds_end": null,
"cds_length": 8208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.853-12_853-11insA",
"hgvs_p": null,
"transcript": "ENST00000309041.12",
"protein_id": "ENSP00000308021.8",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2482,
"cds_start": -4,
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"cds_length": 7449,
"cdna_start": null,
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"cdna_length": 7844,
"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": 53,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.832-12_832-11insA",
"hgvs_p": null,
"transcript": "ENST00000675230.1",
"protein_id": "ENSP00000502503.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2472,
"cds_start": -4,
"cds_end": null,
"cds_length": 7419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7814,
"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": 53,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CEP290",
"gene_hgnc_id": 29021,
"hgvs_c": "c.853-12_853-11insA",
"hgvs_p": null,
"transcript": "ENST00000673058.2",
"protein_id": "ENSP00000500665.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2438,
"cds_start": -4,
"cds_end": null,
"cds_length": 7317,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CEP290",
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"hgvs_c": "c.853-12_853-11insA",
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"transcript": "ENST00000675408.1",
"protein_id": "ENSP00000502298.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
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"intron_rank": 9,
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"gene_symbol": "CEP290",
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"hgvs_c": "c.799-12_799-11insA",
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"transcript": "ENST00000397838.8",
"protein_id": "ENSP00000380938.5",
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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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],
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"hgvs_c": "c.853-12_853-11insA",
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