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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: 3-27145111-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=27145111&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 27145111,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000691995.1",
"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": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.2870-3529G>A",
"hgvs_p": null,
"transcript": "NM_001394966.1",
"protein_id": "NP_001381895.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8332,
"mane_select": "ENST00000691995.1",
"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": 36,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.2870-3529G>A",
"hgvs_p": null,
"transcript": "ENST00000691995.1",
"protein_id": "ENSP00000509472.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1115,
"cds_start": -4,
"cds_end": null,
"cds_length": 3348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8332,
"mane_select": "NM_001394966.1",
"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.947-3529G>A",
"hgvs_p": null,
"transcript": "ENST00000383771.8",
"protein_id": "ENSP00000373281.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 474,
"cds_start": -4,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2023,
"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": 38,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.3011-1637G>A",
"hgvs_p": null,
"transcript": "NM_001394970.1",
"protein_id": "NP_001381899.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": -4,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8503,
"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": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.3011-1637G>A",
"hgvs_p": null,
"transcript": "NM_152534.6",
"protein_id": "NP_689747.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": -4,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8543,
"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": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.3011-1637G>A",
"hgvs_p": null,
"transcript": "ENST00000429845.6",
"protein_id": "ENSP00000395849.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1172,
"cds_start": -4,
"cds_end": null,
"cds_length": 3519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4250,
"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": 37,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.3011-3529G>A",
"hgvs_p": null,
"transcript": "NM_001394963.1",
"protein_id": "NP_001381892.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1162,
"cds_start": -4,
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"cds_length": 3489,
"cdna_start": null,
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"cdna_length": 8473,
"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": 37,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.2924-1637G>A",
"hgvs_p": null,
"transcript": "NM_001394964.1",
"protein_id": "NP_001381893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1143,
"cds_start": -4,
"cds_end": null,
"cds_length": 3432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8416,
"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": 37,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.2870-1637G>A",
"hgvs_p": null,
"transcript": "NM_001394965.1",
"protein_id": "NP_001381894.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1125,
"cds_start": -4,
"cds_end": null,
"cds_length": 3378,
"cdna_start": null,
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"cdna_length": 8362,
"mane_select": null,
"mane_plus": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 38,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.2870-1637G>A",
"hgvs_p": null,
"transcript": "NM_001394971.1",
"protein_id": "NP_001381900.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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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": 36,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "NEK10",
"gene_hgnc_id": 18592,
"hgvs_c": "c.2783-1637G>A",
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"transcript": "NM_001394967.1",
"protein_id": "NP_001381896.1",
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},
{
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"strand": false,
"consequences": [
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],
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"transcript": "NM_001394968.1",
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},
{
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],
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"gene_symbol": "NEK10",
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"hgvs_c": "c.2582-3529G>A",
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"transcript": "NM_001394969.1",
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},
{
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],
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"gene_symbol": "NEK10",
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"hgvs_c": "c.947-1637G>A",
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"transcript": "NM_001304384.3",
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},
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],
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"gene_symbol": "NEK10",
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"hgvs_c": "c.947-1637G>A",
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"transcript": "ENST00000295720.10",
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},
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],
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"gene_symbol": "NEK10",
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},
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],
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"gene_symbol": "NEK10",
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"transcript": "ENST00000498182.5",
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},
{
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],
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"gene_symbol": "NEK10",
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"hgvs_c": "c.3011-1637G>A",
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"transcript": "XM_017005762.3",
"protein_id": "XP_016861251.1",
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},
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],
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],
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},
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],
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},
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],
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"intron_rank": 32,
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"gene_symbol": "NEK10",
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"hgvs_c": "c.3011-1637G>A",
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"transcript": "XM_006712998.3",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 39,
"intron_rank": 32,
"intron_rank_end": null,
"gene_symbol": "NEK10",
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"hgvs_c": "c.3011-1637G>A",
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"transcript": "XM_006712999.4",
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}