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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: 7-20216726-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=20216726&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 20216726,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000400331.10",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACC1",
"gene_hgnc_id": 30215,
"hgvs_c": "c.-218+573T>G",
"hgvs_p": null,
"transcript": "NM_182762.4",
"protein_id": "NP_877439.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9153,
"mane_select": "ENST00000400331.10",
"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": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACC1",
"gene_hgnc_id": 30215,
"hgvs_c": "c.-218+573T>G",
"hgvs_p": null,
"transcript": "ENST00000400331.10",
"protein_id": "ENSP00000383185.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9153,
"mane_select": "NM_182762.4",
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACC1",
"gene_hgnc_id": 30215,
"hgvs_c": "c.-9+573T>G",
"hgvs_p": null,
"transcript": "ENST00000332878.8",
"protein_id": "ENSP00000328410.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 852,
"cds_start": -4,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2994,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.211-683A>C",
"hgvs_p": null,
"transcript": "ENST00000430859.3",
"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": 1135,
"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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.362-683A>C",
"hgvs_p": null,
"transcript": "ENST00000439058.7",
"protein_id": null,
"transcript_support_level": 5,
"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": 1215,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACC1",
"gene_hgnc_id": 30215,
"hgvs_c": "n.59+573T>G",
"hgvs_p": null,
"transcript": "ENST00000471019.1",
"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": 304,
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MACC1",
"gene_hgnc_id": 30215,
"hgvs_c": "n.54+573T>G",
"hgvs_p": null,
"transcript": "ENST00000483317.1",
"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": 608,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.160-683A>C",
"hgvs_p": null,
"transcript": "ENST00000685385.2",
"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": 1106,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.326-683A>C",
"hgvs_p": null,
"transcript": "ENST00000685994.2",
"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": 1269,
"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": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.419+145A>C",
"hgvs_p": null,
"transcript": "ENST00000688687.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
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"cdna_length": 1437,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.147+145A>C",
"hgvs_p": null,
"transcript": "ENST00000691210.2",
"protein_id": null,
"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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"cdna_length": 1159,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.211-1062A>C",
"hgvs_p": null,
"transcript": "ENST00000738502.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.327-1530A>C",
"hgvs_p": null,
"transcript": "ENST00000738503.1",
"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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"protein_coding": false,
"strand": true,
"consequences": [
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],
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"exon_count": 8,
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"intron_rank_end": null,
"gene_symbol": "GIRGL",
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"hgvs_c": "n.386+145A>C",
"hgvs_p": null,
"transcript": "ENST00000738504.1",
"protein_id": null,
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},
{
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"strand": true,
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],
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"gene_symbol": "GIRGL",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 3,
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"gene_symbol": "GIRGL",
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"hgvs_c": "n.299+145A>C",
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"transcript": "ENST00000738506.1",
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},
{
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],
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},
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],
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"gene_symbol": "GIRGL",
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"hgvs_c": "n.475-1530A>C",
"hgvs_p": null,
"transcript": "ENST00000738508.1",
"protein_id": null,
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
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"hgvs_c": "n.213-1062A>C",
"hgvs_p": null,
"transcript": "ENST00000738509.1",
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},
{
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],
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"gene_symbol": "GIRGL",
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},
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],
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"gene_symbol": "GIRGL",
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},
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],
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"gene_symbol": "GIRGL",
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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": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
"hgvs_c": "n.288+145A>C",
"hgvs_p": null,
"transcript": "ENST00000738513.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 999,
"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": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GIRGL",
"gene_hgnc_id": 55702,
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}
],
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}