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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: 13-35640426-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=35640426&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 35640426,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000379939.7",
"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": 59,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.7618-5443C>A",
"hgvs_p": null,
"transcript": "NM_001385012.1",
"protein_id": "NP_001371941.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2967,
"cds_start": -4,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11200,
"mane_select": "ENST00000379939.7",
"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": 59,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.7618-5443C>A",
"hgvs_p": null,
"transcript": "ENST00000379939.7",
"protein_id": "ENSP00000369271.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2967,
"cds_start": -4,
"cds_end": null,
"cds_length": 8904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11200,
"mane_select": "NM_001385012.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "n.764-5443C>A",
"hgvs_p": null,
"transcript": "ENST00000379922.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3791,
"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": 58,
"intron_rank": 48,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.7609-5443C>A",
"hgvs_p": null,
"transcript": "NM_001379245.1",
"protein_id": "NP_001366174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2964,
"cds_start": -4,
"cds_end": null,
"cds_length": 8895,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11191,
"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": 58,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.7618-5833C>A",
"hgvs_p": null,
"transcript": "NM_015678.5",
"protein_id": "NP_056493.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2946,
"cds_start": -4,
"cds_end": null,
"cds_length": 8841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11137,
"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": 58,
"intron_rank": 49,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.7618-5833C>A",
"hgvs_p": null,
"transcript": "ENST00000400445.8",
"protein_id": "ENSP00000383295.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2946,
"cds_start": -4,
"cds_end": null,
"cds_length": 8841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11138,
"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": 42,
"intron_rank": 33,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.5464-5833C>A",
"hgvs_p": null,
"transcript": "ENST00000688626.1",
"protein_id": "ENSP00000509239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2228,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 8429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.5368-5833C>A",
"hgvs_p": null,
"transcript": "ENST00000688363.1",
"protein_id": "ENSP00000510178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2198,
"cds_start": -4,
"cds_end": null,
"cds_length": 6597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8327,
"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": 32,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "NBEA",
"gene_hgnc_id": 7648,
"hgvs_c": "c.3262-5833C>A",
"hgvs_p": null,
"transcript": "ENST00000629018.4",
"protein_id": "ENSP00000486239.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1494,
"cds_start": -4,
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"cds_length": 4485,
"cdna_start": null,
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"cdna_length": 5980,
"mane_select": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "NBEA",
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"hgvs_c": "c.1840-5833C>A",
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"transcript": "ENST00000686320.1",
"protein_id": "ENSP00000508724.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "NBEA",
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"hgvs_c": "c.1135-5833C>A",
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"transcript": "ENST00000685987.1",
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},
{
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],
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],
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"hgvs_c": "c.997-5833C>A",
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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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