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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: 11-34632633-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34632633&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 34632633,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001206616.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.44T>C",
"hgvs_p": "p.Leu15Pro",
"transcript": "ENST00000531794.5",
"protein_id": "ENSP00000435835.1",
"transcript_support_level": 1,
"aa_start": 15,
"aa_end": null,
"aa_length": 322,
"cds_start": 44,
"cds_end": null,
"cds_length": 969,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531794.5"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "NM_012153.6",
"protein_id": "NP_036285.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": "ENST00000257831.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012153.6"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "ENST00000257831.8",
"protein_id": "ENSP00000257831.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5399,
"mane_select": "NM_012153.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257831.8"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "ENST00000530286.5",
"protein_id": "ENSP00000433508.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1280,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530286.5"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "ENST00000533754.5",
"protein_id": "ENSP00000435837.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533754.5"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "ENST00000450654.6",
"protein_id": "ENSP00000399733.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2519,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450654.6"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.44T>C",
"hgvs_p": "p.Leu15Pro",
"transcript": "NM_001206616.2",
"protein_id": "NP_001193545.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 322,
"cds_start": 44,
"cds_end": null,
"cds_length": 969,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 5350,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206616.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.44T>C",
"hgvs_p": "p.Leu15Pro",
"transcript": "NM_001378052.1",
"protein_id": "NP_001364981.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 321,
"cds_start": 44,
"cds_end": null,
"cds_length": 966,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 5347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378052.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.44T>C",
"hgvs_p": "p.Leu15Pro",
"transcript": "XM_005252861.2",
"protein_id": "XP_005252918.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 299,
"cds_start": 44,
"cds_end": null,
"cds_length": 900,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 5281,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005252861.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-23T>C",
"hgvs_p": null,
"transcript": "ENST00000951059.1",
"protein_id": "ENSP00000621118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 299,
"cds_start": null,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5351,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951059.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-23T>C",
"hgvs_p": null,
"transcript": "ENST00000951058.1",
"protein_id": "ENSP00000621117.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 277,
"cds_start": null,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-181T>C",
"hgvs_p": null,
"transcript": "XM_047426757.1",
"protein_id": "XP_047282713.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5508,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426757.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.7-9995T>C",
"hgvs_p": null,
"transcript": "NM_001378053.1",
"protein_id": "NP_001364982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 303,
"cds_start": null,
"cds_end": null,
"cds_length": 912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378053.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-4+9662T>C",
"hgvs_p": null,
"transcript": "NM_001378041.1",
"protein_id": "NP_001364970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378041.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "NM_001378042.1",
"protein_id": "NP_001364971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378042.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-161-9375T>C",
"hgvs_p": null,
"transcript": "NM_001378043.1",
"protein_id": "NP_001364972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
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"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378043.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "NM_001378044.1",
"protein_id": "NP_001364973.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378044.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-4+8247T>C",
"hgvs_p": null,
"transcript": "NM_001378045.1",
"protein_id": "NP_001364974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 5393,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378045.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-4+8316T>C",
"hgvs_p": null,
"transcript": "NM_001378047.1",
"protein_id": "NP_001364976.1",
"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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"cdna_length": 5324,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378047.1"
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-3-9995T>C",
"hgvs_p": null,
"transcript": "ENST00000907181.1",
"protein_id": "ENSP00000577240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 2580,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907181.1"
},
{
"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": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-108-9428T>C",
"hgvs_p": null,
"transcript": "ENST00000907182.1",
"protein_id": "ENSP00000577241.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5602,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907182.1"
},
{
"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": 10,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EHF",
"gene_hgnc_id": 3246,
"hgvs_c": "c.-4+9662T>C",
"hgvs_p": null,
"transcript": "ENST00000907185.1",
"protein_id": "ENSP00000577244.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 300,
"cds_start": null,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907185.1"
},
{
"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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],
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Benign",
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"bayesdelnoaf_prediction": "Benign",
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}