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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: 5-55959737-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=55959737&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 55959737,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000381298.7",
"consequences": [
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "NM_002184.4",
"protein_id": "NP_002175.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9027,
"mane_select": "ENST00000381298.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000381298.7",
"protein_id": "ENSP00000370698.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9027,
"mane_select": "NM_002184.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000381294.8",
"protein_id": "ENSP00000370694.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 857,
"cds_start": -4,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000522633.2",
"protein_id": "ENSP00000435399.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": -4,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.475+665C>T",
"hgvs_p": null,
"transcript": "ENST00000381293.6",
"protein_id": "ENSP00000370693.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 203,
"cds_start": -4,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.64+16478C>T",
"hgvs_p": null,
"transcript": "ENST00000381286.7",
"protein_id": "ENSP00000370686.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 66,
"cds_start": -4,
"cds_end": null,
"cds_length": 201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000502326.7",
"protein_id": "ENSP00000462158.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "ENST00000698645.1",
"protein_id": "ENSP00000513858.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 918,
"cds_start": -4,
"cds_end": null,
"cds_length": 2757,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7621,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "IL6ST",
"gene_hgnc_id": 6021,
"hgvs_c": "c.973+665C>T",
"hgvs_p": null,
"transcript": "NM_001364275.2",
"protein_id": "NP_001351204.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 884,
"cds_start": -4,
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"cds_length": 2655,
"cdna_start": null,
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"cdna_length": 8925,
"mane_select": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 8,
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"gene_symbol": "IL6ST",
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"hgvs_c": "c.973+665C>T",
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"transcript": "ENST00000698646.1",
"protein_id": "ENSP00000513859.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"intron_rank": 8,
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"gene_symbol": "IL6ST",
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"hgvs_c": "c.973+665C>T",
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"transcript": "ENST00000698639.1",
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},
{
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},
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],
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"gene_symbol": "IL6ST",
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],
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],
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},
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],
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],
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"hgvs_c": "c.60+665C>T",
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"transcript": "NM_001364279.2",
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"gene_symbol": "IL6ST",
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],
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},
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],
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"gene_symbol": "IL6ST",
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"clinvar_disease": "not specified",
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"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
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}
],
"message": null
}