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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: 8-47348995-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=47348995&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 47348995,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000297423.9",
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.526-47381C>G",
"hgvs_p": null,
"transcript": "NM_001080394.4",
"protein_id": "NP_001073863.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "ENST00000297423.9",
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.526-47381C>G",
"hgvs_p": null,
"transcript": "ENST00000297423.9",
"protein_id": "ENSP00000297423.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": "NM_001080394.4",
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "n.525+54965C>G",
"hgvs_p": null,
"transcript": "ENST00000524126.5",
"protein_id": "ENSP00000430941.1",
"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": 2614,
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.526-47381C>G",
"hgvs_p": null,
"transcript": "NM_001352931.1",
"protein_id": "NP_001339860.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 883,
"cds_start": -4,
"cds_end": null,
"cds_length": 2652,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3435,
"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": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.346-47381C>G",
"hgvs_p": null,
"transcript": "NM_001282919.1",
"protein_id": "NP_001269848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3344,
"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": 19,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.346-47381C>G",
"hgvs_p": null,
"transcript": "ENST00000518074.5",
"protein_id": "ENSP00000429487.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 876,
"cds_start": -4,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2819,
"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": 20,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.362-45983C>G",
"hgvs_p": null,
"transcript": "NM_001352932.1",
"protein_id": "NP_001339861.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 875,
"cds_start": -4,
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"cds_length": 2628,
"cdna_start": null,
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"cdna_length": 3260,
"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": 20,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.346-47381C>G",
"hgvs_p": null,
"transcript": "NM_001352933.1",
"protein_id": "NP_001339862.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 855,
"cds_start": -4,
"cds_end": null,
"cds_length": 2568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3343,
"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": 17,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.526-47381C>G",
"hgvs_p": null,
"transcript": "NM_001352961.1",
"protein_id": "NP_001339890.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 848,
"cds_start": -4,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
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"cdna_length": 3117,
"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": 19,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPIDR",
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"hgvs_c": "c.316-47381C>G",
"hgvs_p": null,
"transcript": "NM_001282916.1",
"protein_id": "NP_001269845.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 4,
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"gene_symbol": "SPIDR",
"gene_hgnc_id": 28971,
"hgvs_c": "c.316-47381C>G",
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"transcript": "ENST00000541342.2",
"protein_id": "ENSP00000444061.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "SPIDR",
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"transcript": "NM_001352934.1",
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},
{
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],
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"gene_symbol": "SPIDR",
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"hgvs_c": "c.316-47381C>G",
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"transcript": "NM_001352935.1",
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},
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],
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"gene_symbol": "SPIDR",
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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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"gene_symbol": "SPIDR",
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"hgvs_c": "c.34-47381C>G",
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"transcript": "NM_001352940.1",
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],
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"gene_symbol": "SPIDR",
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},
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],
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},
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],
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"gene_symbol": "SPIDR",
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"hgvs_c": "c.361+57858C>G",
"hgvs_p": null,
"transcript": "NM_001352944.1",
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},
{
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"consequences": [
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],
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"gene_symbol": "SPIDR",
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"hgvs_c": "c.151+57858C>G",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}