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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: 20-13788577-CTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=13788577&ref=CTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 13788577,
"ref": "CTT",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000378106.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.264-4_264-3delTT",
"hgvs_p": null,
"transcript": "NM_024120.5",
"protein_id": "NP_077025.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": "ENST00000378106.10",
"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": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.264-11_264-10delTT",
"hgvs_p": null,
"transcript": "ENST00000378106.10",
"protein_id": "ENSP00000367346.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 345,
"cds_start": -4,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5449,
"mane_select": "NM_024120.5",
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.264-11_264-10delTT",
"hgvs_p": null,
"transcript": "ENST00000463598.1",
"protein_id": "ENSP00000420497.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.264-4_264-3delTT",
"hgvs_p": null,
"transcript": "NM_001039375.3",
"protein_id": "NP_001034464.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 317,
"cds_start": -4,
"cds_end": null,
"cds_length": 954,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5365,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.264-4_264-3delTT",
"hgvs_p": null,
"transcript": "NM_001352408.2",
"protein_id": "NP_001339337.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": -4,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-104-4_-104-3delTT",
"hgvs_p": null,
"transcript": "NM_001352403.2",
"protein_id": "NP_001339332.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-318-4_-318-3delTT",
"hgvs_p": null,
"transcript": "NM_001352406.2",
"protein_id": "NP_001339335.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.-298-4_-298-3delTT",
"hgvs_p": null,
"transcript": "NM_001352407.2",
"protein_id": "NP_001339336.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 158,
"cds_start": -4,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.264-11_264-10delTT",
"hgvs_p": null,
"transcript": "ENST00000378081.9",
"protein_id": "ENSP00000437325.1",
"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": 2409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.202-11_202-10delTT",
"hgvs_p": null,
"transcript": "ENST00000469177.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": 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": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.245-11_245-10delTT",
"hgvs_p": null,
"transcript": "ENST00000475968.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 933,
"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": 8,
"intron_rank": 1,
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"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.204-11_204-10delTT",
"hgvs_p": null,
"transcript": "ENST00000476536.5",
"protein_id": null,
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"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.247-11_247-10delTT",
"hgvs_p": null,
"transcript": "ENST00000477732.5",
"protein_id": null,
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"aa_start": null,
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"cds_start": -4,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
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"gene_symbol": "NDUFAF5",
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"hgvs_c": "n.245-11_245-10delTT",
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"transcript": "ENST00000481249.5",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.263-11_263-10delTT",
"hgvs_p": null,
"transcript": "ENST00000485738.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.305-4_305-3delTT",
"hgvs_p": null,
"transcript": "NR_029377.2",
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.305-4_305-3delTT",
"hgvs_p": null,
"transcript": "NR_147978.2",
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.305-4_305-3delTT",
"hgvs_p": null,
"transcript": "NR_147979.2",
"protein_id": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
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"hgvs_c": "n.305-4_305-3delTT",
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"transcript": "NR_147980.2",
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.439-4_439-3delTT",
"hgvs_p": null,
"transcript": "NR_147981.2",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.439-4_439-3delTT",
"hgvs_p": null,
"transcript": "NR_147982.2",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "n.439-4_439-3delTT",
"hgvs_p": null,
"transcript": "NR_147983.2",
"protein_id": null,
"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": 5597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "NDUFAF5",
"gene_hgnc_id": 15899,
"hgvs_c": "c.264-4_264-3delTT",
"hgvs_p": null,
"transcript": "XM_047440469.1",
"protein_id": "XP_047296425.1",
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}
],
"message": null
}