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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: 9-15755197-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=15755197&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 15755197,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000380701.8",
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2671+9566G>A",
"hgvs_p": null,
"transcript": "NM_173550.4",
"protein_id": "NP_775821.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1326,
"cds_start": -4,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": "ENST00000380701.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2671+9566G>A",
"hgvs_p": null,
"transcript": "ENST00000380701.8",
"protein_id": "ENSP00000370077.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1326,
"cds_start": -4,
"cds_end": null,
"cds_length": 3981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6553,
"mane_select": "NM_173550.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 25,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2695+9566G>A",
"hgvs_p": null,
"transcript": "NM_001355547.1",
"protein_id": "NP_001342476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1334,
"cds_start": -4,
"cds_end": null,
"cds_length": 4005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2416+9566G>A",
"hgvs_p": null,
"transcript": "NM_001348002.2",
"protein_id": "NP_001334931.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1241,
"cds_start": -4,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.388+9566G>A",
"hgvs_p": null,
"transcript": "ENST00000449575.6",
"protein_id": "ENSP00000409055.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 468,
"cds_start": -4,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2695+9566G>A",
"hgvs_p": null,
"transcript": "XM_005251397.3",
"protein_id": "XP_005251454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1334,
"cds_start": -4,
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"cds_length": 4005,
"cdna_start": null,
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"cdna_length": 6395,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2695+9566G>A",
"hgvs_p": null,
"transcript": "XM_005251398.5",
"protein_id": "XP_005251455.1",
"transcript_support_level": null,
"aa_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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2695+9566G>A",
"hgvs_p": null,
"transcript": "XM_005251399.5",
"protein_id": "XP_005251456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1334,
"cds_start": -4,
"cds_end": null,
"cds_length": 4005,
"cdna_start": null,
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"cdna_length": 6639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 26,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "CCDC171",
"gene_hgnc_id": 29828,
"hgvs_c": "c.2695+9566G>A",
"hgvs_p": null,
"transcript": "XM_011517788.3",
"protein_id": "XP_011516090.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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},
{
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"consequences": [
"intron_variant"
],
"exon_rank": null,
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"gene_symbol": "CCDC171",
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"hgvs_c": "c.2695+9566G>A",
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"transcript": "XM_047422930.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "CCDC171",
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"hgvs_c": "c.2695+9566G>A",
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],
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],
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],
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],
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],
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