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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: 2-174812294-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174812294&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174812294,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000409900.9",
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.886+15G>T",
"hgvs_p": null,
"transcript": "NM_001822.7",
"protein_id": "NP_001813.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "ENST00000409900.9",
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.886+15G>T",
"hgvs_p": null,
"transcript": "ENST00000409900.9",
"protein_id": "ENSP00000386741.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": "NM_001822.7",
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.511+15G>T",
"hgvs_p": null,
"transcript": "ENST00000295497.13",
"protein_id": "ENSP00000295497.7",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.529+15G>T",
"hgvs_p": null,
"transcript": "ENST00000488080.6",
"protein_id": null,
"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": 1639,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.360G>T",
"hgvs_p": null,
"transcript": "ENST00000485882.1",
"protein_id": null,
"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,
"cdna_end": null,
"cdna_length": 556,
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.937+15G>T",
"hgvs_p": null,
"transcript": "NM_001371514.1",
"protein_id": "NP_001358443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 476,
"cds_start": -4,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2402,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.886+15G>T",
"hgvs_p": null,
"transcript": "NM_001371513.1",
"protein_id": "NP_001358442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 459,
"cds_start": -4,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2527,
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.808+15G>T",
"hgvs_p": null,
"transcript": "NM_001025201.4",
"protein_id": "NP_001020372.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2449,
"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": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.808+15G>T",
"hgvs_p": null,
"transcript": "ENST00000409156.7",
"protein_id": "ENSP00000386470.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 433,
"cds_start": -4,
"cds_end": null,
"cds_length": 1302,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1761,
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.562+15G>T",
"hgvs_p": null,
"transcript": "ENST00000652036.1",
"protein_id": "ENSP00000499139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2257,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.511+15G>T",
"hgvs_p": null,
"transcript": "NM_001206602.2",
"protein_id": "NP_001193531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 334,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2232,
"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,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.478+15G>T",
"hgvs_p": null,
"transcript": "ENST00000651246.1",
"protein_id": "ENSP00000498484.1",
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"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.511+15G>T",
"hgvs_p": null,
"transcript": "ENST00000444394.7",
"protein_id": "ENSP00000411911.2",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cds_length": 966,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
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"gene_symbol": "CHN1",
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"hgvs_c": "c.364+15G>T",
"hgvs_p": null,
"transcript": "ENST00000443238.6",
"protein_id": "ENSP00000409798.2",
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"aa_start": null,
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},
{
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],
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"gene_symbol": "CHN1",
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"hgvs_c": "c.340+15G>T",
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"transcript": "ENST00000413882.6",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.334+15G>T",
"hgvs_p": null,
"transcript": "ENST00000409597.5",
"protein_id": "ENSP00000386469.1",
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},
{
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],
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"gene_symbol": "CHN1",
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"hgvs_c": "c.409+15G>T",
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"transcript": "ENST00000650938.1",
"protein_id": "ENSP00000498385.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.211+15G>T",
"hgvs_p": null,
"transcript": "ENST00000650731.1",
"protein_id": "ENSP00000499146.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "c.262+15G>T",
"hgvs_p": null,
"transcript": "ENST00000409089.7",
"protein_id": "ENSP00000386322.3",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "CHN1",
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"hgvs_c": "n.*333+15G>T",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CHN1",
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"transcript": "ENST00000491801.1",
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*333+15G>T",
"hgvs_p": null,
"transcript": "ENST00000651501.1",
"protein_id": "ENSP00000498894.1",
"transcript_support_level": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CHN1",
"gene_hgnc_id": 1943,
"hgvs_c": "n.*162+15G>T",
"hgvs_p": null,
"transcript": "ENST00000651717.1",
"protein_id": "ENSP00000499124.1",
"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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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
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"verdict": "Likely_benign",
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{
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"verdict": "Likely_benign",
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],
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}
],
"message": null
}