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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: 13-113597687-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=113597687&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 113597687,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000375370.10",
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "NM_007111.5",
"protein_id": "NP_009042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": "ENST00000375370.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "ENST00000375370.10",
"protein_id": "ENSP00000364519.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 410,
"cds_start": -4,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2639,
"mane_select": "NM_007111.5",
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "ENST00000408980.6",
"protein_id": "ENSP00000386145.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 234,
"cds_start": -4,
"cds_end": null,
"cds_length": 707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 866,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "ENST00000453989.2",
"protein_id": "ENSP00000401389.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": -4,
"cds_end": null,
"cds_length": 476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 792,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "n.222+11838G>A",
"hgvs_p": null,
"transcript": "ENST00000465174.1",
"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": 955,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "n.342+11838G>A",
"hgvs_p": null,
"transcript": "ENST00000475254.5",
"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": 804,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "n.12+11838G>A",
"hgvs_p": null,
"transcript": "ENST00000544902.5",
"protein_id": "ENSP00000438450.2",
"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": 1571,
"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": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "n.119+11838G>A",
"hgvs_p": null,
"transcript": "NR_026580.1",
"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": 2412,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "XM_017020717.2",
"protein_id": "XP_016876206.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2744,
"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": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "XM_047430554.1",
"protein_id": "XP_047286510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TFDP1",
"gene_hgnc_id": 11749,
"hgvs_c": "c.12+11838G>A",
"hgvs_p": null,
"transcript": "XM_047430557.1",
"protein_id": "XP_047286513.1",
"transcript_support_level": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "TFDP1",
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"transcript": "XM_047430558.1",
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},
{
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],
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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},
{
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"strand": true,
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],
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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},
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],
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"transcript": "XM_047430561.1",
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},
{
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],
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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},
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],
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"hgvs_c": "c.12+11838G>A",
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"transcript": "XM_047430562.1",
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},
{
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],
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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"transcript": "XM_047430563.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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},
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],
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],
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},
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],
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"intron_rank": 2,
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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"transcript": "XM_017020718.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 2,
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"gene_symbol": "TFDP1",
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"hgvs_c": "c.12+11838G>A",
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"transcript": "XM_047430567.1",
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},
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}