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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: 4-167233030-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=167233030&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 167233030,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000357545.9",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "NM_001040159.2",
"protein_id": "NP_001035249.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "ENST00000357545.9",
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "ENST00000357545.9",
"protein_id": "ENSP00000350153.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": "NM_001040159.2",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "ENST00000502330.5",
"protein_id": "ENSP00000423606.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2180,
"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": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "ENST00000512648.5",
"protein_id": "ENSP00000426177.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 313,
"cds_start": -4,
"cds_end": null,
"cds_length": 942,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1456,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "NM_016950.3",
"protein_id": "NP_058646.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2893,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "ENST00000357154.7",
"protein_id": "ENSP00000349677.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2986,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "ENST00000506886.5",
"protein_id": "ENSP00000420920.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "ENST00000511531.5",
"protein_id": "ENSP00000423421.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2908,
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SPOCK3",
"gene_hgnc_id": 13565,
"hgvs_c": "c.189+955G>T",
"hgvs_p": null,
"transcript": "NM_001430594.1",
"protein_id": "NP_001417523.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
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"cds_length": 1302,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 11,
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"gene_symbol": "SPOCK3",
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"hgvs_c": "c.189+955G>T",
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"transcript": "ENST00000504953.5",
"protein_id": "ENSP00000425570.1",
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},
{
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"protein_coding": true,
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"consequences": [
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],
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"gene_symbol": "SPOCK3",
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"hgvs_c": "c.189+955G>T",
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"transcript": "ENST00000511269.5",
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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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],
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},
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],
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"gene_symbol": "SPOCK3",
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