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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: 21-33353501-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=33353501&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 33353501,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000270139.8",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1295-137G>A",
"hgvs_p": null,
"transcript": "NM_000629.3",
"protein_id": "NP_000620.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6075,
"mane_select": "ENST00000270139.8",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1295-137G>A",
"hgvs_p": null,
"transcript": "ENST00000270139.8",
"protein_id": "ENSP00000270139.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": -4,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6075,
"mane_select": "NM_000629.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.1822G>A",
"hgvs_p": null,
"transcript": "ENST00000700085.1",
"protein_id": null,
"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": 2659,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1295-137G>A",
"hgvs_p": null,
"transcript": "NM_001384498.1",
"protein_id": "NP_001371427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 558,
"cds_start": -4,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3868,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1295-137G>A",
"hgvs_p": null,
"transcript": "NM_001384503.1",
"protein_id": "NP_001371432.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6060,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1295-137G>A",
"hgvs_p": null,
"transcript": "ENST00000703557.1",
"protein_id": "ENSP00000515373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1280-137G>A",
"hgvs_p": null,
"transcript": "NM_001384501.1",
"protein_id": "NP_001371430.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 547,
"cds_start": -4,
"cds_end": null,
"cds_length": 1644,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6045,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1088-137G>A",
"hgvs_p": null,
"transcript": "NM_001384504.1",
"protein_id": "NP_001371433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6157,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1088-137G>A",
"hgvs_p": null,
"transcript": "ENST00000652450.2",
"protein_id": "ENSP00000498654.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6029,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1088-137G>A",
"hgvs_p": null,
"transcript": "ENST00000700080.1",
"protein_id": "ENSP00000514785.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 488,
"cds_start": -4,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6171,
"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": 9,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.998-137G>A",
"hgvs_p": null,
"transcript": "ENST00000442071.3",
"protein_id": "ENSP00000400161.3",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 458,
"cds_start": -4,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
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"cdna_length": 5672,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1294+593G>A",
"hgvs_p": null,
"transcript": "NM_001384499.1",
"protein_id": "NP_001371428.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 434,
"cds_start": -4,
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"cds_length": 1305,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.833-137G>A",
"hgvs_p": null,
"transcript": "NM_001384502.1",
"protein_id": "NP_001371431.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 403,
"cds_start": -4,
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"cds_length": 1212,
"cdna_start": null,
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"cdna_length": 5996,
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"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.1143+3958G>A",
"hgvs_p": null,
"transcript": "ENST00000703561.1",
"protein_id": "ENSP00000515377.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.533-137G>A",
"hgvs_p": null,
"transcript": "NM_001384500.1",
"protein_id": "NP_001371429.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 303,
"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": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "c.533-137G>A",
"hgvs_p": null,
"transcript": "ENST00000700084.1",
"protein_id": "ENSP00000514786.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 9,
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"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.*1012-137G>A",
"hgvs_p": null,
"transcript": "ENST00000651609.2",
"protein_id": "ENSP00000498594.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.*753-137G>A",
"hgvs_p": null,
"transcript": "ENST00000652654.3",
"protein_id": "ENSP00000498666.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"cdna_length": 5916,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.*882-137G>A",
"hgvs_p": null,
"transcript": "ENST00000700046.1",
"protein_id": "ENSP00000514762.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.1296-137G>A",
"hgvs_p": null,
"transcript": "ENST00000700086.1",
"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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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
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"hgvs_c": "n.*496-137G>A",
"hgvs_p": null,
"transcript": "ENST00000703514.1",
"protein_id": "ENSP00000515347.1",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.1295-137G>A",
"hgvs_p": null,
"transcript": "ENST00000703515.1",
"protein_id": "ENSP00000515348.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": "IFNAR1",
"gene_hgnc_id": 5432,
"hgvs_c": "n.*618-137G>A",
"hgvs_p": null,
"transcript": "ENST00000703516.1",
"protein_id": "ENSP00000515349.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5463,
"mane_select": null,
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"biotype": null,
"feature": null
},
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{
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"verdict": "Benign",
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}
],
"message": null
}