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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: 3-42144070-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42144070&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42144070,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000327628.10",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.286+18456G>A",
"hgvs_p": null,
"transcript": "NM_001042646.3",
"protein_id": "NP_001036111.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": "ENST00000327628.10",
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.286+18456G>A",
"hgvs_p": null,
"transcript": "ENST00000327628.10",
"protein_id": "ENSP00000328998.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 953,
"cds_start": -4,
"cds_end": null,
"cds_length": 2862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5128,
"mane_select": "NM_001042646.3",
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.370+18456G>A",
"hgvs_p": null,
"transcript": "ENST00000673621.3",
"protein_id": "ENSP00000500819.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 981,
"cds_start": -4,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3562,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.286+18456G>A",
"hgvs_p": null,
"transcript": "NM_001349246.2",
"protein_id": "NP_001336175.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5065,
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-27+18456G>A",
"hgvs_p": null,
"transcript": "ENST00000487159.5",
"protein_id": "ENSP00000486713.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 849,
"cds_start": -4,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5536,
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-27+18456G>A",
"hgvs_p": null,
"transcript": "NM_001349245.1",
"protein_id": "NP_001336174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": -4,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5062,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.286+18456G>A",
"hgvs_p": null,
"transcript": "NM_001265608.2",
"protein_id": "NP_001252537.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 744,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 4711,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.286+18456G>A",
"hgvs_p": null,
"transcript": "NM_001349247.2",
"protein_id": "NP_001336176.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 712,
"cds_start": -4,
"cds_end": null,
"cds_length": 2139,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5221,
"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": 18,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "c.-27+18456G>A",
"hgvs_p": null,
"transcript": "ENST00000672026.1",
"protein_id": "ENSP00000500099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 608,
"cds_start": -4,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
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"cdna_length": 4888,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TRAK1",
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"hgvs_c": "c.-27+18456G>A",
"hgvs_p": null,
"transcript": "ENST00000484786.5",
"protein_id": "ENSP00000487488.1",
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"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,
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"exon_count": 17,
"intron_rank": 2,
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"gene_symbol": "TRAK1",
"gene_hgnc_id": 29947,
"hgvs_c": "n.396+18456G>A",
"hgvs_p": null,
"transcript": "NR_146089.1",
"protein_id": null,
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},
{
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],
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"hgvs_c": "c.286+18456G>A",
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},
{
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],
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"gene_symbol": "TRAK1",
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},
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],
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"gene_symbol": "TRAK1",
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"hgvs_c": "c.286+18456G>A",
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},
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],
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"transcript": "XM_017005909.2",
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},
{
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],
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"gene_symbol": "TRAK1",
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"hgvs_c": "c.-27+18456G>A",
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},
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],
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"gene_symbol": "TRAK1",
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"hgvs_c": "c.-27+18456G>A",
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"transcript": "XM_047447719.1",
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],
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},
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"strand": true,
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],
"exon_rank": null,
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"gene_symbol": "TRAK1",
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"hgvs_c": "c.286+18456G>A",
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"transcript": "XM_047447723.1",
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},
{
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "TRAK1",
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"hgvs_c": "c.286+18456G>A",
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"transcript": "XM_047447724.1",
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}