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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: 12-50986881-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=50986881&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 50986881,
"ref": "G",
"alt": "C",
"effect": "3_prime_UTR_variant",
"transcript": "NM_001174125.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_000617.3",
"protein_id": "NP_000608.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262052.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000617.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000262052.9",
"protein_id": "ENSP00000262052.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000617.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262052.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000394904.9",
"protein_id": "ENSP00000378364.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394904.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.1629+1501C>G",
"hgvs_p": null,
"transcript": "ENST00000547198.5",
"protein_id": "ENSP00000446769.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 568,
"cds_start": null,
"cds_end": null,
"cds_length": 1707,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547198.5"
},
{
"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": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "n.1629+1501C>G",
"hgvs_p": null,
"transcript": "ENST00000546636.5",
"protein_id": "ENSP00000449008.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000546636.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001174125.2",
"protein_id": "NP_001167596.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174125.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001379455.1",
"protein_id": "NP_001366384.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": null,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001379455.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001174128.2",
"protein_id": "NP_001167599.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174128.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001174129.2",
"protein_id": "NP_001167600.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174129.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001414745.1",
"protein_id": "NP_001401674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414745.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000866730.1",
"protein_id": "ENSP00000536789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000866732.1",
"protein_id": "ENSP00000536791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
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"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000914209.1",
"protein_id": "ENSP00000584268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 561,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914209.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
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"transcript": "ENST00000965625.1",
"protein_id": "ENSP00000635684.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965625.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001174130.2",
"protein_id": "NP_001167601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 557,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001174130.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
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"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
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"transcript": "ENST00000914208.1",
"protein_id": "ENSP00000584267.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914208.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000965622.1",
"protein_id": "ENSP00000635681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965622.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001414748.1",
"protein_id": "NP_001401677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414748.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000965620.1",
"protein_id": "ENSP00000635679.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965620.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001414749.1",
"protein_id": "NP_001401678.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414749.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "NM_001414750.1",
"protein_id": "NP_001401679.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 482,
"cds_start": null,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414750.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC11A2",
"gene_hgnc_id": 10908,
"hgvs_c": "c.*1444C>G",
"hgvs_p": null,
"transcript": "ENST00000914211.1",
"protein_id": "ENSP00000584270.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": null,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914211.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
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"verdict": "Likely_benign",
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"gene_symbol": "SLC11A2",
"hgnc_id": 10908,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.*1444C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}