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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: 22-35943950-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=35943950&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 35943950,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000438146.7",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001349999.2",
"protein_id": "NP_001336928.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "ENST00000695854.1",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "ENST00000695854.1",
"protein_id": "ENSP00000512219.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": -4,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7212,
"mane_select": "NM_001349999.2",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "ENST00000438146.7",
"protein_id": "ENSP00000413035.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7224,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "n.-84-5053T>C",
"hgvs_p": null,
"transcript": "ENST00000695807.1",
"protein_id": "ENSP00000512187.1",
"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": 4860,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001082578.4",
"protein_id": "NP_001076047.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 451,
"cds_start": -4,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7224,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001082579.3",
"protein_id": "NP_001076048.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7221,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001394112.1",
"protein_id": "NP_001381041.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7209,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001394113.1",
"protein_id": "NP_001381042.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": -4,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7209,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001394108.1",
"protein_id": "NP_001381037.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 445,
"cds_start": -4,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
"hgvs_p": null,
"transcript": "NM_001394114.1",
"protein_id": "NP_001381043.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 437,
"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": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 1,
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"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.187-5053T>C",
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"transcript": "NM_001394115.1",
"protein_id": "NP_001381044.1",
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"cds_start": -4,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.43-5053T>C",
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"transcript": "NM_001349991.2",
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},
{
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],
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"exon_count": 13,
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.187-5053T>C",
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"transcript": "NM_001394109.1",
"protein_id": "NP_001381038.1",
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},
{
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"strand": false,
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],
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"intron_rank": 1,
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.187-5053T>C",
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"transcript": "NM_001394110.1",
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},
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],
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.43-5053T>C",
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"transcript": "NM_001349982.2",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.187-5053T>C",
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"transcript": "NM_001394111.1",
"protein_id": "NP_001381040.1",
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},
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],
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.43-5053T>C",
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"transcript": "NM_001349989.2",
"protein_id": "NP_001336918.1",
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},
{
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"strand": false,
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],
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"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.43-5053T>C",
"hgvs_p": null,
"transcript": "NM_001349990.2",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"gene_symbol": "RBFOX2",
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"hgvs_c": "c.43-5053T>C",
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"transcript": "NM_001349996.2",
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},
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],
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"gene_symbol": "RBFOX2",
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},
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],
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"gene_symbol": "RBFOX2",
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},
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"consequences": [
"intron_variant"
],
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.43-5053T>C",
"hgvs_p": null,
"transcript": "NM_001349995.2",
"protein_id": "NP_001336924.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 1,
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"gene_symbol": "RBFOX2",
"gene_hgnc_id": 9906,
"hgvs_c": "c.43-5053T>C",
"hgvs_p": null,
"transcript": "ENST00000408983.2",
"protein_id": "ENSP00000386177.2",
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"cds_start": -4,
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