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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: 12-121459249-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121459249&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121459249,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000377071.9",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1735-5905A>G",
"hgvs_p": null,
"transcript": "NM_032590.5",
"protein_id": "NP_115979.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1336,
"cds_start": -4,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": "ENST00000377071.9",
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1735-5905A>G",
"hgvs_p": null,
"transcript": "ENST00000377071.9",
"protein_id": "ENSP00000366271.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1336,
"cds_start": -4,
"cds_end": null,
"cds_length": 4011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5315,
"mane_select": "NM_032590.5",
"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": 13,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "n.*1341-5905A>G",
"hgvs_p": null,
"transcript": "ENST00000543025.5",
"protein_id": "ENSP00000438138.1",
"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": 2522,
"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": 23,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1831-5905A>G",
"hgvs_p": null,
"transcript": "NM_001439014.1",
"protein_id": "NP_001425943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": -4,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5493,
"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": 24,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1831-5905A>G",
"hgvs_p": null,
"transcript": "NM_001439015.1",
"protein_id": "NP_001425944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1366,
"cds_start": -4,
"cds_end": null,
"cds_length": 4101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5315,
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1813-5905A>G",
"hgvs_p": null,
"transcript": "NM_001439016.1",
"protein_id": "NP_001425945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": -4,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
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"cdna_length": 5393,
"mane_select": null,
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"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1750-5905A>G",
"hgvs_p": null,
"transcript": "ENST00000717755.1",
"protein_id": "ENSP00000520643.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"mane_select": null,
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"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": 25,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1750-5905A>G",
"hgvs_p": null,
"transcript": "ENST00000717756.1",
"protein_id": "ENSP00000520644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1341,
"cds_start": -4,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5310,
"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": 24,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.1735-5905A>G",
"hgvs_p": null,
"transcript": "NM_001439017.1",
"protein_id": "NP_001425946.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1336,
"cds_start": -4,
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},
{
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"intron_variant"
],
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"gene_symbol": "KDM2B",
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"hgvs_c": "c.1735-5905A>G",
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"transcript": "NM_001439018.1",
"protein_id": "NP_001425947.1",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "KDM2B",
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"hgvs_c": "c.1720-5905A>G",
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"transcript": "NM_001439020.1",
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],
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],
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"gene_symbol": "KDM2B",
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"gene_symbol": "KDM2B",
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],
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],
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"gene_symbol": "KDM2B",
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"transcript": "ENST00000542973.6",
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},
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],
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"gene_symbol": "KDM2B",
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"hgvs_c": "c.55-5905A>G",
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