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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: 11-27681641-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=27681641&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 27681641,
"ref": "T",
"alt": "G",
"effect": "intron_variant",
"transcript": "NM_001143810.2",
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+18523A>C",
"hgvs_p": null,
"transcript": "NM_001709.5",
"protein_id": "NP_001700.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356660.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001709.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+18523A>C",
"hgvs_p": null,
"transcript": "ENST00000356660.9",
"protein_id": "ENSP00000349084.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001709.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356660.9"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-58-7299A>C",
"hgvs_p": null,
"transcript": "ENST00000438929.5",
"protein_id": "ENSP00000414303.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000438929.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.24+17741A>C",
"hgvs_p": null,
"transcript": "ENST00000395986.6",
"protein_id": "ENSP00000379309.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395986.6"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.4-23056A>C",
"hgvs_p": null,
"transcript": "ENST00000314915.6",
"protein_id": "ENSP00000320002.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 255,
"cds_start": null,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314915.6"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-21-23056A>C",
"hgvs_p": null,
"transcript": "ENST00000395978.7",
"protein_id": "ENSP00000379302.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395978.7"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-21-23056A>C",
"hgvs_p": null,
"transcript": "ENST00000395981.7",
"protein_id": "ENSP00000379305.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395981.7"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+19330A>C",
"hgvs_p": null,
"transcript": "ENST00000395983.7",
"protein_id": "ENSP00000379307.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395983.7"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-129+18523A>C",
"hgvs_p": null,
"transcript": "ENST00000418212.5",
"protein_id": "ENSP00000400502.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418212.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-21-23056A>C",
"hgvs_p": null,
"transcript": "ENST00000525950.5",
"protein_id": "ENSP00000432035.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525950.5"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+19035A>C",
"hgvs_p": null,
"transcript": "ENST00000530861.5",
"protein_id": "ENSP00000435564.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530861.5"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-21-23056A>C",
"hgvs_p": null,
"transcript": "ENST00000532997.5",
"protein_id": "ENSP00000435805.1",
"transcript_support_level": 1,
"aa_start": null,
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"aa_length": 247,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532997.5"
},
{
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"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+17842A>C",
"hgvs_p": null,
"transcript": "ENST00000533131.5",
"protein_id": "ENSP00000432727.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533131.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-22+18541A>C",
"hgvs_p": null,
"transcript": "ENST00000533246.5",
"protein_id": "ENSP00000432376.1",
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000533246.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.1307+4502T>G",
"hgvs_p": null,
"transcript": "ENST00000499568.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000499568.3"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.743+4502T>G",
"hgvs_p": null,
"transcript": "ENST00000500662.7",
"protein_id": null,
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"biotype": "pseudogene",
"feature": "ENST00000500662.7"
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BDNF-AS",
"gene_hgnc_id": 20608,
"hgvs_c": "n.591-15837T>G",
"hgvs_p": null,
"transcript": "ENST00000502161.7",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000502161.7"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "n.-58-7299A>C",
"hgvs_p": null,
"transcript": "ENST00000530786.5",
"protein_id": "ENSP00000433003.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000530786.5"
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
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"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "n.337+19656A>C",
"hgvs_p": null,
"transcript": "ENST00000584049.5",
"protein_id": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.-58-7299A>C",
"hgvs_p": null,
"transcript": "NM_001143810.2",
"protein_id": "NP_001137282.1",
"transcript_support_level": null,
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143810.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.66+19330A>C",
"hgvs_p": null,
"transcript": "NM_001143809.2",
"protein_id": "NP_001137281.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cds_length": 831,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001143809.2"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
"hgvs_c": "c.24+17741A>C",
"hgvs_p": null,
"transcript": "NM_170734.4",
"protein_id": "NP_733930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 262,
"cds_start": null,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170734.4"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BDNF",
"gene_hgnc_id": 1033,
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"verdict": "Likely_benign",
"transcript": "NM_001143810.2",
"gene_symbol": "BDNF",
"hgnc_id": 1033,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-58-7299A>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000499568.3",
"gene_symbol": "BDNF-AS",
"hgnc_id": 20608,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1307+4502T>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}