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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: 10-96215345-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96215345&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96215345,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000224337.10",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Ala218Thr",
"transcript": "NM_013314.4",
"protein_id": "NP_037446.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 456,
"cds_start": 652,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": "ENST00000224337.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Ala218Thr",
"transcript": "ENST00000224337.10",
"protein_id": "ENSP00000224337.6",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 456,
"cds_start": 652,
"cds_end": null,
"cds_length": 1371,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4344,
"mane_select": "NM_013314.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Ala218Thr",
"transcript": "ENST00000413476.6",
"protein_id": "ENSP00000397487.2",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 404,
"cds_start": 652,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1599,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.607+1308G>A",
"hgvs_p": null,
"transcript": "ENST00000371176.7",
"protein_id": "ENSP00000360218.2",
"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": 2178,
"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": 14,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.350-13G>A",
"hgvs_p": null,
"transcript": "ENST00000427367.6",
"protein_id": "ENSP00000391924.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Ala214Thr",
"transcript": "ENST00000696514.1",
"protein_id": "ENSP00000512680.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 452,
"cds_start": 640,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 1753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Ala218Thr",
"transcript": "ENST00000696513.1",
"protein_id": "ENSP00000512679.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 444,
"cds_start": 652,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.652G>A",
"hgvs_p": "p.Ala218Thr",
"transcript": "NM_001258440.2",
"protein_id": "NP_001245369.1",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 404,
"cds_start": 652,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 4188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*122G>A",
"hgvs_p": null,
"transcript": "ENST00000467799.7",
"protein_id": "ENSP00000466331.3",
"transcript_support_level": 5,
"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": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*476G>A",
"hgvs_p": null,
"transcript": "ENST00000696519.1",
"protein_id": "ENSP00000512684.1",
"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": 1165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*476G>A",
"hgvs_p": null,
"transcript": "ENST00000696521.1",
"protein_id": "ENSP00000512685.1",
"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": 1321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*552G>A",
"hgvs_p": null,
"transcript": "ENST00000696524.1",
"protein_id": "ENSP00000512688.1",
"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": 2876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.647G>A",
"hgvs_p": null,
"transcript": "NR_047680.2",
"protein_id": null,
"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": 4168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*122G>A",
"hgvs_p": null,
"transcript": "ENST00000467799.7",
"protein_id": "ENSP00000466331.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*476G>A",
"hgvs_p": null,
"transcript": "ENST00000696519.1",
"protein_id": "ENSP00000512684.1",
"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": 1165,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*476G>A",
"hgvs_p": null,
"transcript": "ENST00000696521.1",
"protein_id": "ENSP00000512685.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*552G>A",
"hgvs_p": null,
"transcript": "ENST00000696524.1",
"protein_id": "ENSP00000512688.1",
"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": 2876,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.607+1308G>A",
"hgvs_p": null,
"transcript": "NM_001114094.2",
"protein_id": "NP_001107566.1",
"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,
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"cdna_length": 4275,
"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": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.607+1308G>A",
"hgvs_p": null,
"transcript": "NM_001258441.2",
"protein_id": "NP_001245370.1",
"transcript_support_level": null,
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},
{
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"strand": false,
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.607+1308G>A",
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"transcript": "ENST00000696253.1",
"protein_id": "ENSP00000512506.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": 14,
"intron_rank": 5,
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"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.350-13G>A",
"hgvs_p": null,
"transcript": "NM_001258442.2",
"protein_id": "NP_001245371.1",
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"cds_start": -4,
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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": 13,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "c.362-5438G>A",
"hgvs_p": null,
"transcript": "ENST00000696248.1",
"protein_id": "ENSP00000512505.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": -4,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "BLNK",
"gene_hgnc_id": 14211,
"hgvs_c": "n.*77+1308G>A",
"hgvs_p": null,
"transcript": "ENST00000696255.1",
"protein_id": "ENSP00000512507.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 940,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Agammaglobulinemia 4, autosomal recessive|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}