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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: 12-15708037-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=15708037&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 15708037,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000281172.10",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-21-25065C>G",
"hgvs_p": null,
"transcript": "NM_004447.6",
"protein_id": "NP_004438.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": "ENST00000281172.10",
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-21-25065C>G",
"hgvs_p": null,
"transcript": "ENST00000281172.10",
"protein_id": "ENSP00000281172.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3901,
"mane_select": "NM_004447.6",
"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": 20,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "n.-21-25065C>G",
"hgvs_p": null,
"transcript": "ENST00000543468.5",
"protein_id": "ENSP00000445985.1",
"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": 3722,
"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": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-2853C>G",
"hgvs_p": null,
"transcript": "XM_047428495.1",
"protein_id": "XP_047284451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11368,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-22+5229C>G",
"hgvs_p": null,
"transcript": "ENST00000642939.1",
"protein_id": "ENSP00000495312.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 839,
"cds_start": -4,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3950,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-21-25065C>G",
"hgvs_p": null,
"transcript": "NM_001413831.1",
"protein_id": "NP_001400760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 834,
"cds_start": -4,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3937,
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-21-25065C>G",
"hgvs_p": null,
"transcript": "ENST00000646123.1",
"protein_id": "ENSP00000494338.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 830,
"cds_start": -4,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
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"cdna_length": 3682,
"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": 22,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-22+5229C>G",
"hgvs_p": null,
"transcript": "NM_001413832.1",
"protein_id": "NP_001400761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3961,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-22+4816C>G",
"hgvs_p": null,
"transcript": "NM_001413833.1",
"protein_id": "NP_001400762.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
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"cdna_length": 3721,
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-22+4812C>G",
"hgvs_p": null,
"transcript": "NM_001413834.1",
"protein_id": "NP_001400763.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
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"cdna_start": null,
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"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": 22,
"intron_rank": 2,
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"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-21-25065C>G",
"hgvs_p": null,
"transcript": "ENST00000543523.5",
"protein_id": "ENSP00000441867.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "EPS8",
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"transcript": "ENST00000543612.5",
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},
{
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"consequences": [
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],
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"gene_symbol": "EPS8",
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"hgvs_c": "c.-1351-23735C>G",
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"transcript": "ENST00000642278.1",
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},
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],
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"gene_symbol": "EPS8",
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"hgvs_c": "c.-21-25065C>G",
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},
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],
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},
{
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],
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"gene_symbol": "EPS8",
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],
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},
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],
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"gene_symbol": "EPS8",
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"hgvs_c": "c.-21-25065C>G",
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"transcript": "ENST00000647087.1",
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],
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"gene_symbol": "EPS8",
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],
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},
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},
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"consequences": [
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],
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"gene_symbol": "EPS8",
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"hgvs_c": "c.-442-25065C>G",
"hgvs_p": null,
"transcript": "NM_001413837.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "EPS8",
"gene_hgnc_id": 3420,
"hgvs_c": "c.-21-25065C>G",
"hgvs_p": null,
"transcript": "NM_001413839.1",
"protein_id": "NP_001400768.1",
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