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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: 6-109145239-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=109145239&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 109145239,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350654.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001271852.3",
"protein_id": "NP_001258781.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 12903,
"mane_select": "ENST00000517392.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271852.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000517392.6",
"protein_id": "ENSP00000427844.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 12903,
"mane_select": "NM_001271852.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517392.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000359793.7",
"protein_id": "ENSP00000352841.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 2515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359793.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350654.2",
"protein_id": "NP_001337583.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 12954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350654.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350655.2",
"protein_id": "NP_001337584.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 13010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350655.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350656.2",
"protein_id": "NP_001337585.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 90,
"cdna_end": null,
"cdna_length": 12954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350656.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350657.2",
"protein_id": "NP_001337586.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 13143,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350657.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350658.2",
"protein_id": "NP_001337587.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 13398,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350658.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000368970.6",
"protein_id": "ENSP00000357966.2",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 68,
"cdna_end": null,
"cdna_length": 1680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368970.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000873358.1",
"protein_id": "ENSP00000543417.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 92,
"cdna_end": null,
"cdna_length": 3968,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873358.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000873360.1",
"protein_id": "ENSP00000543419.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 157,
"cdna_end": null,
"cdna_length": 2530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873360.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000921542.1",
"protein_id": "ENSP00000591601.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 2974,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921542.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000960034.1",
"protein_id": "ENSP00000630093.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 477,
"cds_start": 18,
"cds_end": null,
"cds_length": 1434,
"cdna_start": 106,
"cdna_end": null,
"cdna_length": 2460,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960034.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.27G>A",
"hgvs_p": "p.Met9Ile",
"transcript": "ENST00000523787.5",
"protein_id": "ENSP00000430529.1",
"transcript_support_level": 5,
"aa_start": 9,
"aa_end": null,
"aa_length": 463,
"cds_start": 27,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 224,
"cdna_end": null,
"cdna_length": 2522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523787.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350659.2",
"protein_id": "NP_001337588.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 461,
"cds_start": 18,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 13161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350659.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000873363.1",
"protein_id": "ENSP00000543422.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 461,
"cds_start": 18,
"cds_end": null,
"cds_length": 1386,
"cdna_start": 79,
"cdna_end": null,
"cdna_length": 2392,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873363.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001083535.3",
"protein_id": "NP_001077004.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 13054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083535.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350652.2",
"protein_id": "NP_001337581.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 13158,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350652.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_001350653.2",
"protein_id": "NP_001337582.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 534,
"cdna_end": null,
"cdna_length": 13347,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350653.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "NM_173830.6",
"protein_id": "NP_776191.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 210,
"cdna_end": null,
"cdna_length": 13023,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173830.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000873357.1",
"protein_id": "ENSP00000543416.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 137,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873357.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEP57L1",
"gene_hgnc_id": 21561,
"hgvs_c": "c.18G>A",
"hgvs_p": "p.Met6Ile",
"transcript": "ENST00000873359.1",
"protein_id": "ENSP00000543418.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 460,
"cds_start": 18,
"cds_end": null,
"cds_length": 1383,
"cdna_start": 285,
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],
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"allele_count_reference_population": 0,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
],
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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
}