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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: 6-137211614-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=137211614&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 137211614,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000367739.9",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.86-4537C>T",
"hgvs_p": null,
"transcript": "NM_000416.3",
"protein_id": "NP_000407.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "ENST00000367739.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.86-4537C>T",
"hgvs_p": null,
"transcript": "ENST00000367739.9",
"protein_id": "ENSP00000356713.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 489,
"cds_start": -4,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2074,
"mane_select": "NM_000416.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.55+3653C>T",
"hgvs_p": null,
"transcript": "NM_001363526.1",
"protein_id": "NP_001350455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.55+3653C>T",
"hgvs_p": null,
"transcript": "ENST00000414770.6",
"protein_id": "ENSP00000394230.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.55+3653C>T",
"hgvs_p": null,
"transcript": "ENST00000646036.1",
"protein_id": "ENSP00000496387.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.55+3653C>T",
"hgvs_p": null,
"transcript": "ENST00000646898.1",
"protein_id": "ENSP00000494069.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-95-1642C>T",
"hgvs_p": null,
"transcript": "ENST00000642390.1",
"protein_id": "ENSP00000496468.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 470,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2123,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-95-1642C>T",
"hgvs_p": null,
"transcript": "ENST00000645045.1",
"protein_id": "ENSP00000494493.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 470,
"cds_start": -4,
"cds_end": null,
"cds_length": 1413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.86-4537C>T",
"hgvs_p": null,
"transcript": "ENST00000458076.6",
"protein_id": "ENSP00000389249.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 455,
"cds_start": -4,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
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"cdna_length": 2038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 1,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-38-4537C>T",
"hgvs_p": null,
"transcript": "NM_001363527.1",
"protein_id": "NP_001350456.1",
"transcript_support_level": null,
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"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "IFNGR1",
"gene_hgnc_id": 5439,
"hgvs_c": "c.-38-4537C>T",
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"transcript": "ENST00000644894.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "IFNGR1",
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},
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],
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],
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},
{
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],
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"gene_symbol": "IFNGR1",
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],
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},
{
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],
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"gene_symbol": "IFNGR1",
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"hgvs_c": "c.2-4537C>T",
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"transcript": "ENST00000696699.1",
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},
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],
"exon_rank": null,
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},
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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": "IFNGR1",
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"hgvs_c": "n.86-4537C>T",
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"transcript": "ENST00000696698.1",
"protein_id": "ENSP00000512819.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "IFNGR1",
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"hgvs_c": "c.55+3653C>T",
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"protein_id": "XP_006715533.1",
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],
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"gnomad_genomes_ac": 30484,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}