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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: 3-50055776-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50055776&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50055776,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000266022.9",
"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": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.1693+1381G>T",
"hgvs_p": null,
"transcript": "NM_005777.3",
"protein_id": "NP_005768.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": "ENST00000266022.9",
"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": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.1693+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000266022.9",
"protein_id": "ENSP00000266022.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1123,
"cds_start": -4,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3630,
"mane_select": "NM_005777.3",
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000442092.5",
"protein_id": "ENSP00000393530.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2260,
"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": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.1297+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000443081.5",
"protein_id": "ENSP00000396466.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 991,
"cds_start": -4,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4010,
"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": 18,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.151+1381G>T",
"hgvs_p": null,
"transcript": "NM_001349194.2",
"protein_id": "NP_001336123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 609,
"cds_start": -4,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2191,
"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": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "NM_001167582.2",
"protein_id": "NP_001161054.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2117,
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "NM_001349190.2",
"protein_id": "NP_001336119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2277,
"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": 20,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "NM_001349191.2",
"protein_id": "NP_001336120.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3556,
"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": 23,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "NM_001349192.2",
"protein_id": "NP_001336121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4187,
"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": 22,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "NM_001349193.2",
"protein_id": "NP_001336122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
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"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3797,
"mane_select": null,
"mane_plus": null,
"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": 19,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000422955.5",
"protein_id": "ENSP00000392939.1",
"transcript_support_level": 2,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "RBM6",
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"hgvs_c": "c.127+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000446471.1",
"protein_id": "ENSP00000394336.1",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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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": 16,
"intron_rank": 3,
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"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "n.105+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000419610.5",
"protein_id": "ENSP00000396410.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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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": 7,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "n.*56+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000425608.5",
"protein_id": "ENSP00000408665.1",
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"aa_start": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "RBM6",
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"hgvs_c": "n.127+1381G>T",
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"transcript": "ENST00000434592.5",
"protein_id": "ENSP00000399942.1",
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"aa_start": 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": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "n.632+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000441115.5",
"protein_id": null,
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},
{
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],
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"gene_symbol": "RBM6",
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"hgvs_c": "n.1297+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000454079.5",
"protein_id": "ENSP00000406548.1",
"transcript_support_level": 2,
"aa_start": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
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"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "n.318+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000464013.5",
"protein_id": null,
"transcript_support_level": 5,
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"mane_select": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "n.380+1381G>T",
"hgvs_p": null,
"transcript": "ENST00000466247.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "RBM6",
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},
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"strand": true,
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],
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"intron_rank": 3,
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"gene_symbol": "RBM6",
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},
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"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 21,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.1693+1381G>T",
"hgvs_p": null,
"transcript": "XM_047447131.1",
"protein_id": "XP_047303087.1",
"transcript_support_level": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "RBM6",
"gene_hgnc_id": 9903,
"hgvs_c": "c.1693+1381G>T",
"hgvs_p": null,
"transcript": "XM_047447132.1",
"protein_id": "XP_047303088.1",
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},
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{
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}
],
"message": null
}