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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: 8-1770934-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=1770934&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 1770934,
"ref": "T",
"alt": "A",
"effect": "splice_region_variant",
"transcript": "NM_018941.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "NM_018941.4",
"protein_id": "NP_061764.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "ENST00000331222.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000331222.6",
"protein_id": "ENSP00000328182.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "NM_018941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"transcript_support_level": 5,
"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": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "NM_018941.4",
"protein_id": "NP_061764.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "ENST00000331222.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000331222.6",
"protein_id": "ENSP00000328182.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7084,
"mane_select": "NM_018941.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KBTBD11-OT1",
"gene_hgnc_id": null,
"hgvs_c": "n.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000635855.1",
"protein_id": "ENSP00000489726.1",
"transcript_support_level": 5,
"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": 6169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000519254.2",
"protein_id": "ENSP00000490016.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000635751.1",
"protein_id": "ENSP00000489694.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000637083.1",
"protein_id": "ENSP00000490235.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000637156.1",
"protein_id": "ENSP00000490458.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000520991.3",
"protein_id": "ENSP00000487905.2",
"transcript_support_level": 5,
"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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CLN8",
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"hgvs_c": "c.-121T>A",
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"transcript": "ENST00000636934.1",
"protein_id": "ENSP00000490218.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CLN8",
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"hgvs_c": "c.-121T>A",
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"transcript": "ENST00000524258.2",
"protein_id": "ENSP00000488898.2",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "CLN8",
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"hgvs_c": "c.-121T>A",
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"transcript": "ENST00000637594.1",
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},
{
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"strand": true,
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],
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"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
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"transcript": "XM_005266021.5",
"protein_id": "XP_005266078.1",
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"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
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"transcript": "XM_005266022.2",
"protein_id": "XP_005266079.1",
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},
{
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],
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"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
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"transcript": "XM_005266023.2",
"protein_id": "XP_005266080.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "XM_011534745.2",
"protein_id": "XP_011533047.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "XM_011534746.3",
"protein_id": "XP_011533048.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CLN8",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "CLN8",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "c.-121T>A",
"hgvs_p": null,
"transcript": "XM_047421513.1",
"protein_id": "XP_047277469.1",
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"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLN8",
"gene_hgnc_id": 2079,
"hgvs_c": "n.-121T>A",
"hgvs_p": null,
"transcript": "ENST00000635970.1",
"protein_id": "ENSP00000490439.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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}
],
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}