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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: 2-237534764-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=237534764&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 237534764,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000264605.8",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1104+117G>C",
"hgvs_p": null,
"transcript": "NM_024101.7",
"protein_id": "NP_077006.1",
"transcript_support_level": null,
"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": 3744,
"mane_select": "ENST00000264605.8",
"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": 9,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1104+117G>C",
"hgvs_p": null,
"transcript": "ENST00000264605.8",
"protein_id": "ENSP00000264605.3",
"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": 3744,
"mane_select": "NM_024101.7",
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1021-5584G>C",
"hgvs_p": null,
"transcript": "ENST00000338530.8",
"protein_id": "ENSP00000341845.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2332,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.901-5584G>C",
"hgvs_p": null,
"transcript": "ENST00000409373.5",
"protein_id": "ENSP00000386780.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2031,
"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": 11,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1086-5584G>C",
"hgvs_p": null,
"transcript": "ENST00000464123.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2183,
"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": 8,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1232-5584G>C",
"hgvs_p": null,
"transcript": "ENST00000468178.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1979,
"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": 15,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1021-5584G>C",
"hgvs_p": null,
"transcript": "NM_001042467.3",
"protein_id": "NP_001035932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 572,
"cds_start": -4,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3660,
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.901-5584G>C",
"hgvs_p": null,
"transcript": "NM_001281473.2",
"protein_id": "NP_001268402.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 480,
"cds_start": -4,
"cds_end": null,
"cds_length": 1443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3384,
"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": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.676-5584G>C",
"hgvs_p": null,
"transcript": "NM_001281474.2",
"protein_id": "NP_001268403.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.676-5584G>C",
"hgvs_p": null,
"transcript": "ENST00000410032.5",
"protein_id": "ENSP00000386338.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 457,
"cds_start": -4,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
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"cdna_length": 2171,
"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": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.384+117G>C",
"hgvs_p": null,
"transcript": "ENST00000437893.5",
"protein_id": "ENSP00000412438.1",
"transcript_support_level": 5,
"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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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 8,
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"gene_symbol": "MLPH",
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"hgvs_c": "c.165+117G>C",
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"transcript": "ENST00000415753.5",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "MLPH",
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"hgvs_c": "c.265-5584G>C",
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"transcript": "ENST00000436965.5",
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},
{
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],
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},
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],
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},
{
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],
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "MLPH",
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"hgvs_c": "n.784+117G>C",
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},
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],
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},
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],
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"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "n.1315+117G>C",
"hgvs_p": null,
"transcript": "NR_104019.2",
"protein_id": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MLPH",
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"hgvs_c": "c.1104+117G>C",
"hgvs_p": null,
"transcript": "XM_017004893.2",
"protein_id": "XP_016860382.1",
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},
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],
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},
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],
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"gene_symbol": "MLPH",
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},
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],
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"gene_symbol": "MLPH",
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"hgvs_c": "c.1104+117G>C",
"hgvs_p": null,
"transcript": "XM_047445807.1",
"protein_id": "XP_047301763.1",
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "MLPH",
"gene_hgnc_id": 29643,
"hgvs_c": "c.1104+117G>C",
"hgvs_p": null,
"transcript": "XM_006712739.2",
"protein_id": "XP_006712802.1",
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},
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"consequences": [
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}