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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: 2-224891779-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=224891779&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 224891779,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000258390.12",
"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": 56,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.416+4516G>C",
"hgvs_p": null,
"transcript": "NM_014689.3",
"protein_id": "NP_055504.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2186,
"cds_start": -4,
"cds_end": null,
"cds_length": 6561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": "ENST00000258390.12",
"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": 56,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.416+4516G>C",
"hgvs_p": null,
"transcript": "ENST00000258390.12",
"protein_id": "ENSP00000258390.7",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2186,
"cds_start": -4,
"cds_end": null,
"cds_length": 6561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7286,
"mane_select": "NM_014689.3",
"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": 56,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.398+4516G>C",
"hgvs_p": null,
"transcript": "ENST00000409592.7",
"protein_id": "ENSP00000386694.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": -4,
"cds_end": null,
"cds_length": 6543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "n.484+4516G>C",
"hgvs_p": null,
"transcript": "ENST00000492369.5",
"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": 3837,
"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": 56,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.455+4516G>C",
"hgvs_p": null,
"transcript": "NM_001363762.1",
"protein_id": "NP_001350691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2199,
"cds_start": -4,
"cds_end": null,
"cds_length": 6600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7290,
"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": 56,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.455+4516G>C",
"hgvs_p": null,
"transcript": "ENST00000645028.1",
"protein_id": "ENSP00000493664.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2199,
"cds_start": -4,
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"cds_length": 6600,
"cdna_start": null,
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"cdna_length": 7276,
"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": 56,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "c.398+4516G>C",
"hgvs_p": null,
"transcript": "NM_001290263.2",
"protein_id": "NP_001277192.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2180,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "n.455+4516G>C",
"hgvs_p": null,
"transcript": "ENST00000644695.1",
"protein_id": "ENSP00000494731.1",
"transcript_support_level": null,
"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": 7320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DOCK10",
"gene_hgnc_id": 23479,
"hgvs_c": "n.416+4516G>C",
"hgvs_p": null,
"transcript": "ENST00000698070.1",
"protein_id": "ENSP00000513542.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 7267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 26,
"intron_rank": 3,
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"gene_symbol": "DOCK10",
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"hgvs_c": "n.275+4516G>C",
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"transcript": "ENST00000698073.1",
"protein_id": "ENSP00000513545.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 57,
"intron_rank": 4,
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"gene_symbol": "DOCK10",
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"hgvs_c": "c.455+4516G>C",
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"transcript": "XM_006712617.5",
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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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"gene_symbol": "DOCK10",
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"hgvs_c": "c.455+4516G>C",
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"transcript": "XM_047444927.1",
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},
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],
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"gene_symbol": "DOCK10",
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"transcript": "XM_047444928.1",
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}