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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: 6-7541812-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7541812&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7541812,
"ref": "G",
"alt": "A",
"effect": "5_prime_UTR_variant",
"transcript": "NM_004415.4",
"consequences": [
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "NM_004415.4",
"protein_id": "NP_004406.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2871,
"cds_start": -4,
"cds_end": null,
"cds_length": 8616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000379802.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000379802.8",
"protein_id": "ENSP00000369129.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2871,
"cds_start": -4,
"cds_end": null,
"cds_length": 8616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_004415.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000418664.3",
"protein_id": "ENSP00000396591.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2272,
"cds_start": -4,
"cds_end": null,
"cds_length": 6819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713869.1",
"protein_id": "ENSP00000519174.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713903.1",
"protein_id": "ENSP00000519202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713911.1",
"protein_id": "ENSP00000519210.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713912.1",
"protein_id": "ENSP00000519211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9662,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713913.1",
"protein_id": "ENSP00000519212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713924.1",
"protein_id": "ENSP00000519221.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "NM_001319034.2",
"protein_id": "NP_001305963.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2428,
"cds_start": -4,
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"cds_length": 7287,
"cdna_start": null,
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"cdna_length": 8368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000710359.2",
"protein_id": "ENSP00000518230.1",
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"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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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "DSP",
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"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "NM_001008844.3",
"protein_id": "NP_001008844.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 23,
"intron_rank": null,
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"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713909.1",
"protein_id": "ENSP00000519208.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
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"transcript": "NM_001406591.1",
"protein_id": "NP_001393520.1",
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},
{
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"strand": true,
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"5_prime_UTR_variant"
],
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"gene_symbol": "DSP",
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"hgvs_c": "c.-104G>A",
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"transcript": "ENST00000713910.1",
"protein_id": "ENSP00000519209.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "DSP",
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"hgvs_c": "c.-104G>A",
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"transcript": "ENST00000683682.2",
"protein_id": "ENSP00000508162.2",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.-104G>A",
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"transcript": "ENST00000713918.1",
"protein_id": "ENSP00000519218.1",
"transcript_support_level": null,
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"cds_start": -4,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713869.1",
"protein_id": "ENSP00000519174.1",
"transcript_support_level": null,
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"mane_select": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713903.1",
"protein_id": "ENSP00000519202.1",
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},
{
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],
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"intron_rank": null,
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"gene_symbol": "DSP",
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"hgvs_c": "n.-104G>A",
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"transcript": "ENST00000713911.1",
"protein_id": "ENSP00000519210.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": null,
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"gene_symbol": "DSP",
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"hgvs_c": "n.-104G>A",
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"transcript": "ENST00000713912.1",
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713913.1",
"protein_id": "ENSP00000519212.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.-104G>A",
"hgvs_p": null,
"transcript": "ENST00000713924.1",
"protein_id": "ENSP00000519221.1",
"transcript_support_level": null,
"aa_start": null,
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"mane_select": null,
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"feature": null
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"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.72,
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_004415.4",
"gene_symbol": "DSP",
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],
"inheritance_mode": "AD,AR",
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},
{
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],
"verdict": "Likely_benign",
"transcript": "NR_183328.1",
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],
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}
],
"clinvar_disease": "Arrhythmogenic right ventricular dysplasia 8,Lethal acantholytic epidermolysis bullosa,Woolly hair-skin fragility syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Woolly hair-skin fragility syndrome|Arrhythmogenic right ventricular dysplasia 8|Lethal acantholytic epidermolysis bullosa",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}