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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: 1-77811292-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77811292&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 77811292,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000370791.9",
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.638-2442G>A",
"hgvs_p": null,
"transcript": "NM_198549.4",
"protein_id": "NP_940951.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": "ENST00000370791.8",
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "ENST00000443751.4",
"protein_id": "ENSP00000393675.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6409,
"mane_select": null,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "ENST00000370791.9",
"protein_id": "ENSP00000359827.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 600,
"cds_start": -4,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000219201",
"gene_hgnc_id": null,
"hgvs_c": "n.490C>T",
"hgvs_p": null,
"transcript": "ENST00000427577.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 921,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC653631",
"gene_hgnc_id": null,
"hgvs_c": "n.77811292G>A",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.638-2442G>A",
"hgvs_p": null,
"transcript": "NM_001270384.2",
"protein_id": "NP_001257313.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 633,
"cds_start": -4,
"cds_end": null,
"cds_length": 1902,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6385,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.638-2442G>A",
"hgvs_p": null,
"transcript": "ENST00000710932.1",
"protein_id": "ENSP00000518551.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 632,
"cds_start": -4,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6382,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.554-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394566.1",
"protein_id": "NP_001381495.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 604,
"cds_start": -4,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6298,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394567.1",
"protein_id": "NP_001381496.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6455,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394568.1",
"protein_id": "NP_001381497.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6460,
"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394569.1",
"protein_id": "NP_001381498.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394570.1",
"protein_id": "NP_001381499.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "ENST00000646892.1",
"protein_id": "ENSP00000495239.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001363583.1",
"protein_id": "NP_001350512.1",
"transcript_support_level": null,
"aa_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001363584.1",
"protein_id": "NP_001350513.1",
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001363586.1",
"protein_id": "NP_001350515.1",
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"aa_start": null,
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 16,
"intron_rank": 5,
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"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394571.1",
"protein_id": "NP_001381500.1",
"transcript_support_level": null,
"aa_start": null,
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"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "NM_001416120.1",
"protein_id": "NP_001403049.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.542-2442G>A",
"hgvs_p": null,
"transcript": "ENST00000645526.1",
"protein_id": "ENSP00000494964.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 15,
"intron_rank": 4,
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"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.524-2442G>A",
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"transcript": "NM_001394572.1",
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.524-2442G>A",
"hgvs_p": null,
"transcript": "ENST00000710931.1",
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},
{
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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": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.638-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394573.1",
"protein_id": "NP_001381502.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1960,
"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": 16,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "MIGA1",
"gene_hgnc_id": 24741,
"hgvs_c": "c.458-2442G>A",
"hgvs_p": null,
"transcript": "NM_001394574.1",
"protein_id": "NP_001381503.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 572,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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{
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}
],
"message": null
}