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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: 17-63530802-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=63530802&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 63530802,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000314672.10",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "NM_001278919.2",
"protein_id": "NP_001265848.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": -4,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "ENST00000314672.10",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "ENST00000314672.10",
"protein_id": "ENSP00000318212.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": -4,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3758,
"mane_select": "NM_001278919.2",
"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": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "ENST00000583023.1",
"protein_id": "ENSP00000463533.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3821,
"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": 6,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "ENST00000580652.5",
"protein_id": "ENSP00000464672.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 502,
"cds_start": -4,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1703,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "NM_030779.4",
"protein_id": "NP_110406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 994,
"cds_start": -4,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3866,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "NM_173092.4",
"protein_id": "NP_775115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3008,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "ENST00000456941.6",
"protein_id": "ENSP00000396900.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2928,
"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": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "ENST00000581784.5",
"protein_id": "ENSP00000463830.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 905,
"cds_start": -4,
"cds_end": null,
"cds_length": 2718,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3017,
"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": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.306+260A>G",
"hgvs_p": null,
"transcript": "NM_001278920.2",
"protein_id": "NP_001265849.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 835,
"cds_start": -4,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3625,
"mane_select": null,
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "n.*344+260A>G",
"hgvs_p": null,
"transcript": "ENST00000583465.1",
"protein_id": "ENSP00000462417.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "XM_017025175.2",
"protein_id": "XP_016880664.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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},
{
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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": 4,
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.675+260A>G",
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"transcript": "XM_017025176.3",
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 4,
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"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
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"transcript": "XM_017025177.2",
"protein_id": "XP_016880666.1",
"transcript_support_level": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 4,
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.675+260A>G",
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"transcript": "XM_017025178.3",
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},
{
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],
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.675+260A>G",
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"transcript": "XM_017025179.3",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.675+260A>G",
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"transcript": "XM_047436854.1",
"protein_id": "XP_047292810.1",
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},
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],
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"intron_rank": 4,
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"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
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"transcript": "XM_011525308.3",
"protein_id": "XP_011523610.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "XM_011525309.3",
"protein_id": "XP_011523611.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 4,
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.675+260A>G",
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"transcript": "XM_011525310.3",
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},
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],
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"gene_symbol": "KCNH6",
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"hgvs_c": "c.675+260A>G",
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},
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],
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"gene_symbol": "KCNH6",
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},
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"exon_count": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.306+260A>G",
"hgvs_p": null,
"transcript": "XM_017025180.3",
"protein_id": "XP_016880669.1",
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"feature": null
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "KCNH6",
"gene_hgnc_id": 18862,
"hgvs_c": "c.675+260A>G",
"hgvs_p": null,
"transcript": "XM_011525311.2",
"protein_id": "XP_011523613.1",
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000314672.10",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}