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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: 5-66890713-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=66890713&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 66890713,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000403625.7",
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.643-9238G>A",
"hgvs_p": null,
"transcript": "NM_001164664.2",
"protein_id": "NP_001158136.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2623,
"cds_start": -4,
"cds_end": null,
"cds_length": 7872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10677,
"mane_select": "ENST00000403625.7",
"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": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.643-9238G>A",
"hgvs_p": null,
"transcript": "ENST00000403625.7",
"protein_id": "ENSP00000385727.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2623,
"cds_start": -4,
"cds_end": null,
"cds_length": 7872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10677,
"mane_select": "NM_001164664.2",
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.40-9238G>A",
"hgvs_p": null,
"transcript": "ENST00000403666.5",
"protein_id": "ENSP00000384313.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2434,
"cds_start": -4,
"cds_end": null,
"cds_length": 7305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7586,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.643-9238G>A",
"hgvs_p": null,
"transcript": "ENST00000406374.5",
"protein_id": "ENSP00000385088.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 250,
"cds_start": -4,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1066,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.643-9238G>A",
"hgvs_p": null,
"transcript": "ENST00000406039.5",
"protein_id": "ENSP00000384547.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 238,
"cds_start": -4,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 717,
"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": 30,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.643-9238G>A",
"hgvs_p": null,
"transcript": "NM_001393524.1",
"protein_id": "NP_001380453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2626,
"cds_start": -4,
"cds_end": null,
"cds_length": 7881,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10686,
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.643-9238G>A",
"hgvs_p": null,
"transcript": "NM_001393525.1",
"protein_id": "NP_001380454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2556,
"cds_start": -4,
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"cds_length": 7671,
"cdna_start": null,
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"cdna_length": 10476,
"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": 28,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.40-9238G>A",
"hgvs_p": null,
"transcript": "NM_015183.3",
"protein_id": "NP_055998.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2434,
"cds_start": -4,
"cds_end": null,
"cds_length": 7305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9918,
"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": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.40-9238G>A",
"hgvs_p": null,
"transcript": "NM_001393526.1",
"protein_id": "NP_001380455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2367,
"cds_start": -4,
"cds_end": null,
"cds_length": 7104,
"cdna_start": null,
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"cdna_length": 9717,
"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,
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"exon_count": 26,
"intron_rank": 1,
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"gene_symbol": "MAST4",
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"hgvs_c": "c.40-9238G>A",
"hgvs_p": null,
"transcript": "NM_001393528.1",
"protein_id": "NP_001380457.1",
"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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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 1,
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"gene_symbol": "MAST4",
"gene_hgnc_id": 19037,
"hgvs_c": "c.40-9238G>A",
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"transcript": "ENST00000490016.6",
"protein_id": "ENSP00000421739.1",
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"cds_start": -4,
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},
{
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],
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},
{
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],
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"gene_symbol": "MAST4",
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},
{
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"strand": true,
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],
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"gene_symbol": "MAST4",
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},
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],
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},
{
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],
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"gene_symbol": "MAST4",
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},
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],
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"gene_symbol": "MAST4",
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"hgvs_c": "c.22-9238G>A",
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"transcript": "ENST00000450827.5",
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},
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],
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],
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},
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],
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"gene_symbol": "MAST4",
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"transcript": "XM_047417158.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 3,
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"gene_symbol": "MAST4",
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"hgvs_c": "c.307-9238G>A",
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}
],
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}