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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: 17-81050837-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=81050837&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 81050837,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000428708.7",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "NM_001144888.2",
"protein_id": "NP_001138360.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": "ENST00000428708.7",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "ENST00000428708.7",
"protein_id": "ENSP00000401022.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": -4,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3304,
"mane_select": "NM_001144888.2",
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "ENST00000321300.10",
"protein_id": "ENSP00000316338.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2879,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "ENST00000321280.11",
"protein_id": "ENSP00000315685.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 521,
"cds_start": -4,
"cds_end": null,
"cds_length": 1566,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1939,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "ENST00000435091.7",
"protein_id": "ENSP00000413069.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2129,
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "ENST00000575712.5",
"protein_id": "ENSP00000458964.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 512,
"cds_start": -4,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2512,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.154-2831G>A",
"hgvs_p": null,
"transcript": "NM_001385129.1",
"protein_id": "NP_001372058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
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"cdna_start": null,
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"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": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.154-2831G>A",
"hgvs_p": null,
"transcript": "NM_001385130.1",
"protein_id": "NP_001372059.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 567,
"cds_start": -4,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2194,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "BAIAP2",
"gene_hgnc_id": 947,
"hgvs_c": "c.55-2831G>A",
"hgvs_p": null,
"transcript": "NM_001385131.1",
"protein_id": "NP_001372060.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 565,
"cds_start": -4,
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"cds_length": 1698,
"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"gene_symbol": "BAIAP2",
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"hgvs_c": "c.154-2831G>A",
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"transcript": "NM_001385132.1",
"protein_id": "NP_001372061.1",
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"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "BAIAP2",
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"hgvs_c": "c.154-2831G>A",
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"transcript": "NM_001385133.1",
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},
{
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],
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],
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"hgvs_c": "c.154-2831G>A",
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},
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],
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"gene_symbol": "BAIAP2",
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],
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],
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},
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"hgvs_c": "c.55-2831G>A",
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],
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"gene_symbol": "BAIAP2",
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"hgvs_c": "c.55-2831G>A",
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},
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],
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"gene_symbol": "BAIAP2",
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"transcript": "NM_017450.3",
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"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
}