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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: 17-13805544-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=13805544&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 13805544,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000602539.3",
"consequences": [
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.374-15231G>C",
"hgvs_p": null,
"transcript": "ENST00000577798.6",
"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": 936,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.810-48815G>C",
"hgvs_p": null,
"transcript": "ENST00000582752.7",
"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": 1965,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.870-28195G>C",
"hgvs_p": null,
"transcript": "ENST00000602539.3",
"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": 1392,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.534-28195G>C",
"hgvs_p": null,
"transcript": "ENST00000602743.1",
"protein_id": null,
"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": 576,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.223-14469G>C",
"hgvs_p": null,
"transcript": "ENST00000655970.2",
"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,
"cdna_end": null,
"cdna_length": 1163,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.622-28195G>C",
"hgvs_p": null,
"transcript": "ENST00000662986.1",
"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,
"cdna_end": null,
"cdna_length": 1367,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.736-28195G>C",
"hgvs_p": null,
"transcript": "ENST00000686296.1",
"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": 1258,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": 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": 4,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.816-28195G>C",
"hgvs_p": null,
"transcript": "ENST00000686809.1",
"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,
"cdna_end": null,
"cdna_length": 1537,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.719-15231G>C",
"hgvs_p": null,
"transcript": "ENST00000690301.2",
"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,
"cdna_end": null,
"cdna_length": 1740,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.729-15231G>C",
"hgvs_p": null,
"transcript": "ENST00000701067.1",
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"mane_select": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
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"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.275-28195G>C",
"hgvs_p": null,
"transcript": "ENST00000701579.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "COX10-DT",
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"hgvs_c": "n.651-28195G>C",
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"transcript": "ENST00000701610.1",
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},
{
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],
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"transcript": "ENST00000701670.2",
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},
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],
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"gene_symbol": "COX10-DT",
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},
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],
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},
{
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],
"exon_rank": null,
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"gene_symbol": "COX10-DT",
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"hgvs_c": "n.696-28195G>C",
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},
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],
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},
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],
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"hgvs_c": "n.870-28195G>C",
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 3,
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"gene_symbol": "COX10-DT",
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"hgvs_c": "n.698-14511G>C",
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"transcript": "ENST00000792911.1",
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],
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"gene_symbol": "COX10-DT",
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],
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "COX10-DT",
"gene_hgnc_id": 38873,
"hgvs_c": "n.677-15231G>C",
"hgvs_p": null,
"transcript": "ENST00000792915.1",
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},
{
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],
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