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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: 13-40809576-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=40809576&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 40809576,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000338625.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Ile",
"transcript": "NM_014252.4",
"protein_id": "NP_055067.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 301,
"cds_start": 815,
"cds_end": null,
"cds_length": 906,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": "ENST00000338625.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Ile",
"transcript": "ENST00000338625.9",
"protein_id": "ENSP00000342267.4",
"transcript_support_level": 1,
"aa_start": 272,
"aa_end": null,
"aa_length": 301,
"cds_start": 815,
"cds_end": null,
"cds_length": 906,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 3821,
"mane_select": "NM_014252.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A15",
"gene_hgnc_id": 10985,
"hgvs_c": "c.815C>T",
"hgvs_p": "p.Thr272Ile",
"transcript": "ENST00000707033.1",
"protein_id": "ENSP00000516711.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 301,
"cds_start": 815,
"cds_end": null,
"cds_length": 906,
"cdna_start": 1080,
"cdna_end": null,
"cdna_length": 3964,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.451-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000379515.4",
"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": 1212,
"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": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.786-10289G>A",
"hgvs_p": null,
"transcript": "ENST00000842303.1",
"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": 1705,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.304-10289G>A",
"hgvs_p": null,
"transcript": "ENST00000842304.1",
"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": 1223,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.210-10289G>A",
"hgvs_p": null,
"transcript": "ENST00000842305.1",
"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": 1129,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.529-10289G>A",
"hgvs_p": null,
"transcript": "ENST00000842306.1",
"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": 1448,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.370-4374G>A",
"hgvs_p": null,
"transcript": "ENST00000842307.1",
"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": 1462,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.259-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842308.1",
"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": 1440,
"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": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.556-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842309.1",
"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,
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"cdna_length": 1317,
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.429-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842310.1",
"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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"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.378-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842311.1",
"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": 1075,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.525-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842312.1",
"protein_id": null,
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"aa_start": null,
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},
{
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],
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"gene_symbol": "SUGT1P3",
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"hgvs_c": "n.341-8852G>A",
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"transcript": "ENST00000842313.1",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.257-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842314.1",
"protein_id": null,
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},
{
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],
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"gene_symbol": "SUGT1P3",
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"transcript": "ENST00000842315.1",
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.594-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842316.1",
"protein_id": null,
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"aa_start": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.423-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842317.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
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},
{
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"strand": false,
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],
"exon_rank": null,
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"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
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"hgvs_c": "n.393-8852G>A",
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"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
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],
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.603-4374G>A",
"hgvs_p": null,
"transcript": "ENST00000842320.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SUGT1P3",
"gene_hgnc_id": null,
"hgvs_c": "n.345-8852G>A",
"hgvs_p": null,
"transcript": "ENST00000842321.1",
"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": 601,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
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"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
],
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}