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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: 9-135771105-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=135771105&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 135771105,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_020822.3",
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2008+10G>C",
"hgvs_p": null,
"transcript": "NM_020822.3",
"protein_id": "NP_065873.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371757.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020822.3"
},
{
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2008+10G>C",
"hgvs_p": null,
"transcript": "ENST00000371757.7",
"protein_id": "ENSP00000360822.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020822.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371757.7"
},
{
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "n.*1618+10G>C",
"hgvs_p": null,
"transcript": "ENST00000460750.5",
"protein_id": "ENSP00000418777.1",
"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": "ENST00000460750.5"
},
{
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2008+10G>C",
"hgvs_p": null,
"transcript": "ENST00000487664.5",
"protein_id": "ENSP00000417851.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1256,
"cds_start": null,
"cds_end": null,
"cds_length": 3771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000487664.5"
},
{
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1951+10G>C",
"hgvs_p": null,
"transcript": "ENST00000631073.2",
"protein_id": "ENSP00000486130.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1237,
"cds_start": null,
"cds_end": null,
"cds_length": 3714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000631073.2"
},
{
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1951+10G>C",
"hgvs_p": null,
"transcript": "ENST00000490355.6",
"protein_id": "ENSP00000418003.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490355.6"
},
{
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1951+10G>C",
"hgvs_p": null,
"transcript": "ENST00000488444.6",
"protein_id": "ENSP00000419007.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": null,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000488444.6"
},
{
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1909+10G>C",
"hgvs_p": null,
"transcript": "ENST00000263604.5",
"protein_id": "ENSP00000263604.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"cds_start": null,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263604.5"
},
{
"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": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1891+10G>C",
"hgvs_p": null,
"transcript": "ENST00000486577.6",
"protein_id": "ENSP00000417578.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486577.6"
},
{
"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": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1951+10G>C",
"hgvs_p": null,
"transcript": "ENST00000491806.6",
"protein_id": "ENSP00000419086.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1216,
"cds_start": null,
"cds_end": null,
"cds_length": 3651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000491806.6"
},
{
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1873+10G>C",
"hgvs_p": null,
"transcript": "NM_001272003.2",
"protein_id": "NP_001258932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": null,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001272003.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1873+10G>C",
"hgvs_p": null,
"transcript": "ENST00000628528.2",
"protein_id": "ENSP00000486374.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000628528.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1864+10G>C",
"hgvs_p": null,
"transcript": "ENST00000968545.1",
"protein_id": "ENSP00000638604.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1208,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000968545.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1849+10G>C",
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"transcript": "ENST00000674572.1",
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"biotype": "protein_coding",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1849+10G>C",
"hgvs_p": null,
"transcript": "ENST00000630792.2",
"protein_id": "ENSP00000486486.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cds_length": 3606,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000630792.2"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
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"hgvs_c": "c.1765+10G>C",
"hgvs_p": null,
"transcript": "ENST00000676421.1",
"protein_id": "ENSP00000502322.1",
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"biotype": "protein_coding",
"feature": "ENST00000676421.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1756+10G>C",
"hgvs_p": null,
"transcript": "ENST00000675399.1",
"protein_id": "ENSP00000501932.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "ENST00000675399.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1756+10G>C",
"hgvs_p": null,
"transcript": "ENST00000675090.1",
"protein_id": "ENSP00000501833.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"feature": "ENST00000675090.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2152+10G>C",
"hgvs_p": null,
"transcript": "XM_011518878.4",
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"feature": "XM_011518878.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 18,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.2143+10G>C",
"hgvs_p": null,
"transcript": "XM_011518879.4",
"protein_id": "XP_011517181.1",
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"feature": "XM_011518879.4"
},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1942+10G>C",
"hgvs_p": null,
"transcript": "XM_017014931.2",
"protein_id": "XP_016870420.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1234,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017014931.2"
},
{
"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": 31,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "KCNT1",
"gene_hgnc_id": 18865,
"hgvs_c": "c.1909+10G>C",
"hgvs_p": null,
"transcript": "XM_011518880.2",
"protein_id": "XP_011517182.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1223,
"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": "XM_011518880.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.561,
"phylop100way_prediction": "Benign",
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"acmg_classification": "Benign",
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{
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"BP6",
"BS1",
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"clinvar_disease": " 14,Autosomal dominant nocturnal frontal lobe epilepsy 5,Developmental and epileptic encephalopathy,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1 B:1",
"phenotype_combined": "not provided|Developmental and epileptic encephalopathy, 14;Autosomal dominant nocturnal frontal lobe epilepsy 5",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}