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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: 8-11808704-C-CCCCACTCCCACT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11808704&ref=C&alt=CCCCACTCCCACT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11808704,
"ref": "C",
"alt": "CCCCACTCCCACT",
"effect": "disruptive_inframe_insertion",
"transcript": "NM_001287750.2",
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "NM_004462.5",
"protein_id": "NP_004453.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000220584.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004462.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "ENST00000220584.9",
"protein_id": "ENSP00000220584.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004462.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000220584.9"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "n.100-959_100-958insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "ENST00000529464.5",
"protein_id": "ENSP00000434770.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000529464.5"
},
{
"aa_ref": "Q",
"aa_alt": "HSHSQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.191_192insCTCCCACTCCCA",
"hgvs_p": "p.Pro63_Gln64insHisSerHisSer",
"transcript": "NM_001287750.2",
"protein_id": "NP_001274679.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 476,
"cds_start": 192,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287750.2"
},
{
"aa_ref": "Q",
"aa_alt": "HSHSQ",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.191_192insCTCCCACTCCCA",
"hgvs_p": "p.Pro63_Gln64insHisSerHisSer",
"transcript": "ENST00000525954.5",
"protein_id": "ENSP00000491537.1",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 476,
"cds_start": 192,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525954.5"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "ENST00000938356.1",
"protein_id": "ENSP00000608415.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": null,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938356.1"
},
{
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "NM_001287742.2",
"protein_id": "NP_001274671.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287742.2"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "NM_001287743.2",
"protein_id": "NP_001274672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 417,
"cds_start": null,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287743.2"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "ENST00000530337.6",
"protein_id": "ENSP00000431852.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
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"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": "ENST00000530337.6"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "ENST00000615631.5",
"protein_id": "ENSP00000481481.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 10,
"intron_rank": 3,
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
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"transcript": "ENST00000866105.1",
"protein_id": "ENSP00000536164.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 11,
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
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},
{
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],
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"gene_symbol": "FDFT1",
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},
{
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],
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},
{
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],
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
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},
{
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],
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},
{
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],
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"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
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"transcript": "ENST00000443614.6",
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},
{
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],
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.79-86_79-85insCTCCCACTCCCA",
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},
{
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],
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},
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],
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"gene_symbol": "FDFT1",
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"hgvs_c": "c.100-86_100-85insCTCCCACTCCCA",
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"transcript": "ENST00000941570.1",
"protein_id": "ENSP00000611629.1",
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"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FDFT1",
"gene_hgnc_id": 3629,
"hgvs_c": "c.-93-86_-93-85insCTCCCACTCCCA",
"hgvs_p": null,
"transcript": "NM_001287744.2",
"protein_id": "NP_001274673.1",
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}
],
"message": null
}