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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: 17-82832512-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=82832512&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 82832512,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "ENST00000269394.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF750",
"gene_hgnc_id": 25843,
"hgvs_c": "c.-58C>T",
"hgvs_p": null,
"transcript": "NM_024702.3",
"protein_id": "NP_078978.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": "ENST00000269394.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF750",
"gene_hgnc_id": 25843,
"hgvs_c": "c.-58C>T",
"hgvs_p": null,
"transcript": "ENST00000269394.4",
"protein_id": "ENSP00000269394.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 723,
"cds_start": -4,
"cds_end": null,
"cds_length": 2172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": "NM_024702.3",
"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": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null,
"transcript": "NM_005993.5",
"protein_id": "NP_005984.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "ENST00000355528.9",
"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": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000355528.9",
"protein_id": "ENSP00000347719.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7159,
"mane_select": "NM_005993.5",
"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": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000684760.1",
"protein_id": "ENSP00000507696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1281,
"cds_start": -4,
"cds_end": null,
"cds_length": 3846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7403,
"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": 39,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000684349.1",
"protein_id": "ENSP00000508067.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1254,
"cds_start": -4,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7322,
"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": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000539345.6",
"protein_id": "ENSP00000440671.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": -4,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3975,
"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": 40,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000684464.1",
"protein_id": "ENSP00000508333.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": -4,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7252,
"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": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1408+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000682479.1",
"protein_id": "ENSP00000508214.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1222,
"cds_start": -4,
"cds_end": null,
"cds_length": 3669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7258,
"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": 40,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1402+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000684000.1",
"protein_id": "ENSP00000506795.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1220,
"cds_start": -4,
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"cds_length": 3663,
"cdna_start": null,
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"cdna_length": 7100,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1267+17578G>A",
"hgvs_p": null,
"transcript": "NM_001411101.1",
"protein_id": "NP_001398030.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1175,
"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
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"gene_symbol": "TBCD",
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"hgvs_c": "c.1267+17578G>A",
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"transcript": "ENST00000682722.1",
"protein_id": "ENSP00000508364.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 13,
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"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1246+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000684429.1",
"protein_id": "ENSP00000507224.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1318+17578G>A",
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"transcript": "NM_001411102.1",
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},
{
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"strand": true,
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],
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"intron_rank": 13,
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"gene_symbol": "TBCD",
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"hgvs_c": "c.1318+17578G>A",
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"transcript": "ENST00000684544.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 13,
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"gene_symbol": "TBCD",
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"hgvs_c": "c.1318+17578G>A",
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"transcript": "ENST00000683282.1",
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},
{
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],
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"gene_symbol": "TBCD",
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"hgvs_c": "c.1129+17578G>A",
"hgvs_p": null,
"transcript": "NM_001438250.1",
"protein_id": "NP_001425179.1",
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},
{
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],
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"intron_rank": 13,
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"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "c.1129+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000684188.1",
"protein_id": "ENSP00000507153.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 13,
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"hgvs_c": "c.1318+17578G>A",
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],
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},
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],
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"intron_rank": 1,
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"gene_symbol": "TBCD",
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"hgvs_c": "c.-369+1795G>A",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ZNF750",
"gene_hgnc_id": 25843,
"hgvs_c": "c.-229-1026C>T",
"hgvs_p": null,
"transcript": "ENST00000572562.1",
"protein_id": "ENSP00000458389.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "TBCD",
"gene_hgnc_id": 11581,
"hgvs_c": "n.1454+17578G>A",
"hgvs_p": null,
"transcript": "ENST00000681983.1",
"protein_id": null,
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"cds_start": -4,
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"verdict": "Benign",
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"gene_symbol": "ZNF750",
"hgnc_id": 25843,
"effects": [
"5_prime_UTR_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.-58C>T",
"hgvs_p": null
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355528.9",
"gene_symbol": "TBCD",
"hgnc_id": 11581,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1318+17578G>A",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}