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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: 6-44224183-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44224183&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 44224183,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000371755.9",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+542A>C",
"hgvs_p": null,
"transcript": "NM_001372327.1",
"protein_id": "NP_001359256.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": "ENST00000371755.9",
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+542A>C",
"hgvs_p": null,
"transcript": "ENST00000371755.9",
"protein_id": "ENSP00000360820.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": "NM_001372327.1",
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-51-3080A>C",
"hgvs_p": null,
"transcript": "ENST00000393844.7",
"protein_id": "ENSP00000377427.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2204,
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-159+542A>C",
"hgvs_p": null,
"transcript": "ENST00000371740.10",
"protein_id": "ENSP00000360805.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 228,
"cds_start": -4,
"cds_end": null,
"cds_length": 687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 928,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.186+2498A>C",
"hgvs_p": null,
"transcript": "NM_001304462.2",
"protein_id": "NP_001291391.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 535,
"cds_start": -4,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2304,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.25-3077A>C",
"hgvs_p": null,
"transcript": "NM_001304465.2",
"protein_id": "NP_001291394.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": -4,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2207,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.25-3080A>C",
"hgvs_p": null,
"transcript": "NM_001304466.2",
"protein_id": "NP_001291395.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 481,
"cds_start": -4,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2204,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-159+542A>C",
"hgvs_p": null,
"transcript": "NM_001078175.3",
"protein_id": "NP_001071643.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2190,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-162+228A>C",
"hgvs_p": null,
"transcript": "NM_001078177.2",
"protein_id": "NP_001071645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2507,
"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": 14,
"intron_rank": 2,
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"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-52+2498A>C",
"hgvs_p": null,
"transcript": "ENST00000371713.6",
"protein_id": "ENSP00000360778.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"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": 14,
"intron_rank": 1,
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"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.-162+228A>C",
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"transcript": "ENST00000371724.6",
"protein_id": "ENSP00000360789.1",
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},
{
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"consequences": [
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],
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},
{
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],
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"gene_symbol": "SLC29A1",
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"transcript": "ENST00000652453.1",
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},
{
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],
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"gene_symbol": "SLC29A1",
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"hgvs_c": "c.-54-3077A>C",
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},
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],
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"transcript": "ENST00000371731.6",
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},
{
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],
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"gene_symbol": "SLC29A1",
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},
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],
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"gene_symbol": "SLC29A1",
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"hgvs_c": "c.-52+228A>C",
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"transcript": "ENST00000393841.6",
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},
{
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],
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"gene_symbol": "SLC29A1",
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"hgvs_c": "c.-159+228A>C",
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"transcript": "ENST00000645692.1",
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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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"consequences": [
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],
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"gene_symbol": "SLC29A1",
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"hgvs_c": "n.147+4401A>C",
"hgvs_p": null,
"transcript": "ENST00000642613.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 2,
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"gene_symbol": "SLC29A1",
"gene_hgnc_id": 11003,
"hgvs_c": "c.186+2498A>C",
"hgvs_p": null,
"transcript": "XM_011514341.3",
"protein_id": "XP_011512643.1",
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],
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"gnomad_genomes_ac": 128995,
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"splice_prediction_selected": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000371755.9",
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"effects": [
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
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"custom_annotations": null
}
],
"message": null
}