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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: 3-38518854-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38518854&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38518854,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000287675.10",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "c.646-5047A>C",
"hgvs_p": null,
"transcript": "NM_005107.4",
"protein_id": "NP_005098.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "ENST00000287675.10",
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "c.646-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000287675.10",
"protein_id": "ENSP00000287675.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 368,
"cds_start": -4,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3076,
"mane_select": "NM_005107.4",
"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": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.*543-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000412107.5",
"protein_id": "ENSP00000400239.1",
"transcript_support_level": 1,
"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": 1467,
"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": 6,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.*389-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000431472.5",
"protein_id": "ENSP00000394977.1",
"transcript_support_level": 1,
"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": 1255,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.*229+4986A>C",
"hgvs_p": null,
"transcript": "ENST00000454803.6",
"protein_id": "ENSP00000412756.2",
"transcript_support_level": 1,
"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": 1548,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.*420-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000457367.5",
"protein_id": "ENSP00000402164.1",
"transcript_support_level": 1,
"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": 2075,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "c.496-5047A>C",
"hgvs_p": null,
"transcript": "NM_001145464.2",
"protein_id": "NP_001138936.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2926,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "c.496-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000422077.6",
"protein_id": "ENSP00000404305.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1317,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "c.532-4319A>C",
"hgvs_p": null,
"transcript": "ENST00000453767.1",
"protein_id": "ENSP00000397124.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 186,
"cds_start": -4,
"cds_end": null,
"cds_length": 561,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.*370-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000436414.5",
"protein_id": "ENSP00000413176.1",
"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,
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"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.*599-5047A>C",
"hgvs_p": null,
"transcript": "ENST00000438992.5",
"protein_id": "ENSP00000407641.1",
"transcript_support_level": 2,
"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 7,
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"gene_symbol": "EXOG",
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"hgvs_c": "n.*637-5047A>C",
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"transcript": "ENST00000447573.5",
"protein_id": "ENSP00000406101.1",
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"aa_start": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "EXOG",
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"hgvs_c": "n.*111-408A>C",
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"transcript": "ENST00000450732.1",
"protein_id": "ENSP00000415568.1",
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.1360-5047A>C",
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"transcript": "ENST00000474071.5",
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},
{
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"strand": true,
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],
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"transcript": "ENST00000483749.1",
"protein_id": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.698+4986A>C",
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"transcript": "NR_134938.2",
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},
{
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],
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"transcript": "NR_153322.2",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "EXOG",
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"hgvs_c": "n.674-4319A>C",
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"transcript": "NR_153323.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.585-5047A>C",
"hgvs_p": null,
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},
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],
"exon_rank": null,
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},
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],
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"gene_symbol": "EXOG",
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},
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"strand": true,
"consequences": [
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],
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"intron_rank": 6,
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"gene_symbol": "EXOG",
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"hgvs_c": "n.741-5047A>C",
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"transcript": "NR_153327.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "EXOG",
"gene_hgnc_id": 3347,
"hgvs_c": "n.880-5047A>C",
"hgvs_p": null,
"transcript": "NR_153328.2",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 9,
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}