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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: 11-17278870-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=17278870&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 17278870,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000529010.6",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-156+2042G>A",
"hgvs_p": null,
"transcript": "NM_005013.4",
"protein_id": "NP_005004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": "ENST00000529010.6",
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-156+2042G>A",
"hgvs_p": null,
"transcript": "ENST00000529010.6",
"protein_id": "ENSP00000436455.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": "NM_005013.4",
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-155-3919G>A",
"hgvs_p": null,
"transcript": "ENST00000526120.5",
"protein_id": "ENSP00000436215.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 496,
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-240+2042G>A",
"hgvs_p": null,
"transcript": "ENST00000533738.6",
"protein_id": "ENSP00000435558.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "n.-156+2667G>A",
"hgvs_p": null,
"transcript": "ENST00000646648.1",
"protein_id": "ENSP00000495210.1",
"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": 2746,
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-363+2042G>A",
"hgvs_p": null,
"transcript": "NM_001352661.2",
"protein_id": "NP_001339590.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2510,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-279+2042G>A",
"hgvs_p": null,
"transcript": "NM_001352663.2",
"protein_id": "NP_001339592.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 421,
"cds_start": -4,
"cds_end": null,
"cds_length": 1266,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2426,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-236+2042G>A",
"hgvs_p": null,
"transcript": "NM_001352664.2",
"protein_id": "NP_001339593.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2380,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-156+2022G>A",
"hgvs_p": null,
"transcript": "NM_001352668.2",
"protein_id": "NP_001339597.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2320,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-240+2042G>A",
"hgvs_p": null,
"transcript": "NM_001352669.2",
"protein_id": "NP_001339598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 420,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 2384,
"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": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-156+1775G>A",
"hgvs_p": null,
"transcript": "NM_001352670.2",
"protein_id": "NP_001339599.1",
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"aa_start": null,
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"cds_start": -4,
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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": 15,
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"gene_symbol": "NUCB2",
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"hgvs_c": "c.-240+1573G>A",
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"transcript": "NM_001352672.2",
"protein_id": "NP_001339601.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "NUCB2",
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"hgvs_c": "c.-156+2042G>A",
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"transcript": "ENST00000323688.10",
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},
{
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"strand": true,
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],
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"gene_symbol": "NUCB2",
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"hgvs_c": "c.-363+2042G>A",
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"transcript": "NM_001352662.2",
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],
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},
{
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "NUCB2",
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"hgvs_c": "c.-236+2042G>A",
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},
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"gene_symbol": "NUCB2",
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"hgvs_c": "c.-240+2042G>A",
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},
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"strand": true,
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],
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"intron_rank": 1,
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"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-1+2042G>A",
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"transcript": "NM_001352667.2",
"protein_id": "NP_001339596.1",
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},
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],
"exon_rank": null,
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"exon_count": 13,
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"gene_symbol": "NUCB2",
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"hgvs_c": "c.-156+1775G>A",
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"transcript": "NM_001352671.2",
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},
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],
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"gene_symbol": "NUCB2",
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},
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],
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"gene_symbol": "NUCB2",
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},
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],
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"exon_count": 5,
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"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-156+1775G>A",
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"transcript": "ENST00000533926.5",
"protein_id": "ENSP00000433194.1",
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"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NUCB2",
"gene_hgnc_id": 8044,
"hgvs_c": "c.-282+2022G>A",
"hgvs_p": null,
"transcript": "ENST00000531172.5",
"protein_id": "ENSP00000435968.1",
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