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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: 1-227059459-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=227059459&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 227059459,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000366766.8",
"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": 37,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2905-7474T>C",
"hgvs_p": null,
"transcript": "NM_001394014.1",
"protein_id": "NP_001380943.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1754,
"cds_start": -4,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10978,
"mane_select": "ENST00000366766.8",
"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": 37,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2905-7474T>C",
"hgvs_p": null,
"transcript": "ENST00000366766.8",
"protein_id": "ENSP00000355728.5",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1754,
"cds_start": -4,
"cds_end": null,
"cds_length": 5265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10978,
"mane_select": "NM_001394014.1",
"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": 36,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2904+10318T>C",
"hgvs_p": null,
"transcript": "ENST00000366769.7",
"protein_id": "ENSP00000355731.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1719,
"cds_start": -4,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10855,
"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": 36,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2828-70T>C",
"hgvs_p": null,
"transcript": "ENST00000366764.8",
"protein_id": "ENSP00000355726.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1699,
"cds_start": -4,
"cds_end": null,
"cds_length": 5100,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5158,
"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": 35,
"intron_rank": 20,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2661+10318T>C",
"hgvs_p": null,
"transcript": "ENST00000366767.7",
"protein_id": "ENSP00000355729.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1638,
"cds_start": -4,
"cds_end": null,
"cds_length": 4917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9320,
"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": 23,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.784-7474T>C",
"hgvs_p": null,
"transcript": "ENST00000442054.5",
"protein_id": "ENSP00000401051.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1047,
"cds_start": -4,
"cds_end": null,
"cds_length": 3144,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3786,
"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": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.510+10318T>C",
"hgvs_p": null,
"transcript": "ENST00000448940.5",
"protein_id": "ENSP00000415388.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 983,
"cds_start": -4,
"cds_end": null,
"cds_length": 2952,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7355,
"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": 40,
"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2953-48T>C",
"hgvs_p": null,
"transcript": "NM_001387550.1",
"protein_id": "NP_001374479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1845,
"cds_start": -4,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11251,
"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": 37,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2905-48T>C",
"hgvs_p": null,
"transcript": "NM_001366019.2",
"protein_id": "NP_001352948.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1732,
"cds_start": -4,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
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"cdna_length": 10912,
"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": 37,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2905-48T>C",
"hgvs_p": null,
"transcript": "ENST00000334218.9",
"protein_id": "ENSP00000335341.6",
"transcript_support_level": 5,
"aa_start": 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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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 36,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2904+10318T>C",
"hgvs_p": null,
"transcript": "NM_003607.4",
"protein_id": "NP_003598.2",
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},
{
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"consequences": [
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],
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"gene_symbol": "CDC42BPA",
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"transcript": "NM_001366011.1",
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},
{
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],
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"exon_count": 35,
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"gene_symbol": "CDC42BPA",
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"hgvs_c": "c.2904+10318T>C",
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"transcript": "NM_001366010.2",
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},
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],
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"gene_symbol": "CDC42BPA",
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"hgvs_c": "c.2661+10318T>C",
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],
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"gene_symbol": "CDC42BPA",
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"hgvs_c": "c.472-7474T>C",
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"transcript": "ENST00000441725.1",
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},
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],
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"gene_symbol": "CDC42BPA",
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"gene_symbol": "CDC42BPA",
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"hgvs_c": "c.2953-7474T>C",
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},
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],
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"gene_symbol": "CDC42BPA",
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"hgvs_c": "c.2905-48T>C",
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"gene_symbol": "CDC42BPA",
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},
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],
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"gene_symbol": "CDC42BPA",
"gene_hgnc_id": 1737,
"hgvs_c": "c.2905-48T>C",
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"transcript": "XM_005273320.5",
"protein_id": "XP_005273377.1",
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},
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"consequences": [
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],
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"intron_rank": 22,
"intron_rank_end": null,
"gene_symbol": "CDC42BPA",
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"hgvs_c": "c.2953-48T>C",
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