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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: 12-6574121-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6574121&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6574121,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000644480.2",
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5362-852C>G",
"hgvs_p": null,
"transcript": "NM_001273.5",
"protein_id": "NP_001264.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": "ENST00000544040.7",
"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": 40,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5362-852C>G",
"hgvs_p": null,
"transcript": "ENST00000544040.7",
"protein_id": "ENSP00000440542.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": "NM_001273.5",
"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": 37,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5329-852C>G",
"hgvs_p": null,
"transcript": "ENST00000357008.7",
"protein_id": "ENSP00000349508.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1902,
"cds_start": -4,
"cds_end": null,
"cds_length": 5709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": 38,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.*443-852C>G",
"hgvs_p": null,
"transcript": "ENST00000644480.2",
"protein_id": "ENSP00000493629.2",
"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": 8502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285238",
"gene_hgnc_id": null,
"hgvs_c": "n.10-7504C>G",
"hgvs_p": null,
"transcript": "ENST00000646322.1",
"protein_id": "ENSP00000494949.1",
"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": 2356,
"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": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5446-852C>G",
"hgvs_p": null,
"transcript": "ENST00000645095.1",
"protein_id": "ENSP00000496634.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1940,
"cds_start": -4,
"cds_end": null,
"cds_length": 5823,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6291,
"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": 39,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5437-852C>G",
"hgvs_p": null,
"transcript": "ENST00000544484.6",
"protein_id": "ENSP00000440392.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1937,
"cds_start": -4,
"cds_end": null,
"cds_length": 5814,
"cdna_start": null,
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"cdna_length": 6555,
"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": 38,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5386-852C>G",
"hgvs_p": null,
"transcript": "ENST00000642879.1",
"protein_id": "ENSP00000494456.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1920,
"cds_start": -4,
"cds_end": null,
"cds_length": 5763,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6309,
"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": 37,
"intron_rank_end": null,
"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5368-852C>G",
"hgvs_p": null,
"transcript": "ENST00000645005.1",
"protein_id": "ENSP00000493471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": -4,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6175,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 36,
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"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5341-852C>G",
"hgvs_p": null,
"transcript": "NM_001297553.2",
"protein_id": "NP_001284482.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1905,
"cds_start": -4,
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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": 40,
"intron_rank": 37,
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"gene_symbol": "CHD4",
"gene_hgnc_id": 1919,
"hgvs_c": "c.5341-852C>G",
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"transcript": "ENST00000645022.1",
"protein_id": "ENSP00000496163.1",
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},
{
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],
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},
{
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],
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"gene_symbol": "CHD4",
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"transcript": "NM_001363606.2",
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},
{
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],
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"gene_symbol": "CHD4",
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],
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},
{
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],
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"transcript": "ENST00000646608.1",
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},
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],
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"gene_symbol": "CHD4",
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"hgvs_c": "c.4075-852C>G",
"hgvs_p": null,
"transcript": "ENST00000643815.1",
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],
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"gene_symbol": "CHD4",
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"hgvs_c": "c.1294-852C>G",
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},
{
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"strand": false,
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],
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"gene_symbol": "CHD4",
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"hgvs_c": "n.*218-852C>G",
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"transcript": "ENST00000642637.1",
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},
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}