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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: 12-53049257-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53049257&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53049257,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001416202.1",
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "c.105+9C>T",
"hgvs_p": null,
"transcript": "ENST00000314276.7",
"protein_id": "ENSP00000319756.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1419,
"cds_start": -4,
"cds_end": null,
"cds_length": 4260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4944,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "c.-298+2194C>T",
"hgvs_p": null,
"transcript": "ENST00000379902.7",
"protein_id": "ENSP00000369232.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4737,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "c.75+1884C>T",
"hgvs_p": null,
"transcript": "NM_001416202.1",
"protein_id": "NP_001403131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1409,
"cds_start": -4,
"cds_end": null,
"cds_length": 4230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4803,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "c.6+9C>T",
"hgvs_p": null,
"transcript": "NM_001416203.1",
"protein_id": "NP_001403132.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1395,
"cds_start": -4,
"cds_end": null,
"cds_length": 4188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4739,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "c.6+9C>T",
"hgvs_p": null,
"transcript": "NM_015319.3",
"protein_id": "NP_056134.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1386,
"cds_start": -4,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4712,
"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": 29,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "c.-298+2194C>T",
"hgvs_p": null,
"transcript": "NM_198316.2",
"protein_id": "NP_938072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1285,
"cds_start": -4,
"cds_end": null,
"cds_length": 3858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4718,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.303-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000546793.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 2868,
"mane_select": null,
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "n.60+9C>T",
"hgvs_p": null,
"transcript": "ENST00000549498.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 1368,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.132-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000550601.6",
"protein_id": null,
"transcript_support_level": 3,
"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": 1529,
"mane_select": null,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2",
"gene_hgnc_id": 19737,
"hgvs_c": "n.41+9C>T",
"hgvs_p": null,
"transcript": "ENST00000551302.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 559,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.123+5064G>A",
"hgvs_p": null,
"transcript": "ENST00000654457.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1420,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.306-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000657514.3",
"protein_id": null,
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"aa_start": null,
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},
{
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"canonical": false,
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.306-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000657729.3",
"protein_id": null,
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"aa_start": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "TNS2-AS1",
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"hgvs_c": "n.296-3196G>A",
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"transcript": "ENST00000658354.2",
"protein_id": null,
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},
{
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],
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"gene_symbol": "TNS2-AS1",
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"hgvs_c": "n.310-3196G>A",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
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"hgvs_c": "n.131-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000662901.2",
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},
{
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],
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"gene_symbol": "TNS2-AS1",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.287-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000668380.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.118-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000700826.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "TNS2-AS1",
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},
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "TNS2-AS1",
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},
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],
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"intron_rank": 2,
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"gene_symbol": "TNS2-AS1",
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"hgvs_c": "n.542+4139G>A",
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"transcript": "ENST00000732096.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "TNS2-AS1",
"gene_hgnc_id": 27464,
"hgvs_c": "n.36-3196G>A",
"hgvs_p": null,
"transcript": "ENST00000732097.1",
"protein_id": null,
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"aa_start": null,
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"mane_select": null,
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"biotype": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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{
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"clinvar_submissions_summary": "null",
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"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}