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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: 2-239991849-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=239991849&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 239991849,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000252711.7",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "NM_004544.4",
"protein_id": "NP_004535.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "ENST00000252711.7",
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000252711.7",
"protein_id": "ENSP00000252711.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 355,
"cds_start": -4,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4855,
"mane_select": "NM_004544.4",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.981-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000307300.8",
"protein_id": "ENSP00000302321.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 429,
"cds_start": -4,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1313,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "n.1721G>A",
"hgvs_p": null,
"transcript": "ENST00000677324.1",
"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": 7292,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000677567.1",
"protein_id": "ENSP00000503217.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": -4,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1547,
"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": 11,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000404554.5",
"protein_id": "ENSP00000385697.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1557,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000678289.1",
"protein_id": "ENSP00000504063.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": -4,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
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"cdna_length": 3022,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "NM_001322019.2",
"protein_id": "NP_001308948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2062,
"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": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000448880.6",
"protein_id": "ENSP00000408224.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 375,
"cds_start": -4,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2509,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.939-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000620965.5",
"protein_id": "ENSP00000480897.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": -4,
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"cds_length": 1116,
"cdna_start": null,
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"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,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.891-1667G>A",
"hgvs_p": null,
"transcript": "NM_001410987.1",
"protein_id": "NP_001397916.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "NDUFA10",
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"hgvs_c": "c.891-1667G>A",
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"transcript": "ENST00000444548.6",
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},
{
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],
"exon_rank": null,
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"exon_count": 10,
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"gene_symbol": "NDUFA10",
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"hgvs_c": "c.891-1667G>A",
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},
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],
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"gene_symbol": "NDUFA10",
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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": "NDUFA10",
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"hgvs_c": "c.891-1667G>A",
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],
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"gene_symbol": "NDUFA10",
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},
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"consequences": [
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],
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"gene_symbol": "NDUFA10",
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"hgvs_c": "c.891-1667G>A",
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"transcript": "ENST00000677263.1",
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},
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "NDUFA10",
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],
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"gene_symbol": "NDUFA10",
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},
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],
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},
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"consequences": [
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],
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"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.717-1667G>A",
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"transcript": "ENST00000677294.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "NDUFA10",
"gene_hgnc_id": 7684,
"hgvs_c": "c.603-1667G>A",
"hgvs_p": null,
"transcript": "ENST00000443626.5",
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}