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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: 14-68873882-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=68873882&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 68873882,
"ref": "C",
"alt": "A",
"effect": "downstream_gene_variant",
"transcript": "ENST00000394419.9",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "NM_001130004.2",
"protein_id": "NP_001123476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "ENST00000394419.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "ENST00000394419.9",
"protein_id": "ENSP00000377941.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 914,
"cds_start": -4,
"cds_end": null,
"cds_length": 2745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3722,
"mane_select": "NM_001130004.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "ENST00000193403.11",
"protein_id": "ENSP00000193403.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 892,
"cds_start": -4,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "NM_001424012.1",
"protein_id": "NP_001410941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 935,
"cds_start": -4,
"cds_end": null,
"cds_length": 2808,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3785,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "NM_001424013.1",
"protein_id": "NP_001410942.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 934,
"cds_start": -4,
"cds_end": null,
"cds_length": 2805,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3782,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "NM_001424014.1",
"protein_id": "NP_001410943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 930,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
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"transcript": "ENST00000683198.1",
"protein_id": "ENSP00000507889.1",
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"aa_length": 922,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "ACTN1",
"gene_hgnc_id": 163,
"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "NM_001424015.1",
"protein_id": "NP_001410944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 921,
"cds_start": -4,
"cds_end": null,
"cds_length": 2766,
"cdna_start": null,
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"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": null,
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"gene_symbol": "ACTN1",
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"hgvs_c": "c.*977G>T",
"hgvs_p": null,
"transcript": "NM_001424016.1",
"protein_id": "NP_001410945.1",
"transcript_support_level": null,
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"aa_end": null,
"aa_length": 900,
"cds_start": -4,
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},
{
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],
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"gene_symbol": "ACTN1",
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"transcript": "NM_001411035.1",
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},
{
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],
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{
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],
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],
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],
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}
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}