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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: 9-95506413-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=95506413&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PP3_Moderate",
"BP6",
"BS2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "PTCH1",
"hgnc_id": 9585,
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001083604.3",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"PP3_Moderate",
"BP6"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000271155",
"hgnc_id": null,
"hgvs_c": "n.179C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 3,
"transcript": "ENST00000604104.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BP6,BS2",
"acmg_score": -3,
"allele_count_reference_population": 29,
"alphamissense_prediction": null,
"alphamissense_score": 0.8642,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.44,
"chr": "9",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Gorlin syndrome,Hereditary cancer-predisposing syndrome,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8660788536071777,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6563,
"cdna_start": null,
"cds_end": null,
"cds_length": 3891,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000429896.6",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414823.2",
"strand": false,
"transcript": "ENST00000429896.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 173,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000546820.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448843.1",
"strand": false,
"transcript": "ENST00000546820.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 173,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000547672.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447878.1",
"strand": false,
"transcript": "ENST00000547672.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 173,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000553011.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447797.1",
"strand": false,
"transcript": "ENST00000553011.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 91,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": null,
"cds_end": null,
"cds_length": 276,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000551630.1",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450131.1",
"strand": false,
"transcript": "ENST00000551630.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8662,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 4344,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_000264.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Val130Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000331920.11",
"protein_coding": true,
"protein_id": "NP_000255.2",
"strand": false,
"transcript": "NM_000264.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "V",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8662,
"cdna_start": 1293,
"cds_end": null,
"cds_length": 4344,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000331920.11",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Val130Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000264.5",
"protein_coding": true,
"protein_id": "ENSP00000332353.6",
"strand": false,
"transcript": "ENST00000331920.11",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "V",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7905,
"cdna_start": 536,
"cds_end": null,
"cds_length": 4341,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001083603.3",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000437951.6",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077072.1",
"strand": false,
"transcript": "NM_001083603.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 1446,
"aa_ref": "V",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7905,
"cdna_start": 536,
"cds_end": null,
"cds_length": 4341,
"cds_start": 385,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000437951.6",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.385G>A",
"hgvs_p": "p.Val129Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001083603.3",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389744.2",
"strand": false,
"transcript": "ENST00000437951.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 183,
"aa_ref": "V",
"aa_start": 64,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1254,
"cdna_start": 776,
"cds_end": null,
"cds_length": 552,
"cds_start": 190,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000468211.6",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Val64Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000449745.1",
"strand": false,
"transcript": "ENST00000468211.6",
"transcript_support_level": 1
},
{
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"aa_length": 1296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6563,
"cdna_start": null,
"cds_end": null,
"cds_length": 3891,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000429896.6",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414823.2",
"strand": false,
"transcript": "ENST00000429896.6",
"transcript_support_level": 1
},
{
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"aa_length": 173,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 864,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
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"exon_rank_end": null,
"feature": "ENST00000546820.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448843.1",
"strand": false,
"transcript": "ENST00000546820.5",
"transcript_support_level": 1
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 881,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000547672.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447878.1",
"strand": false,
"transcript": "ENST00000547672.5",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1037,
"cdna_start": null,
"cds_end": null,
"cds_length": 522,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000553011.5",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447797.1",
"strand": false,
"transcript": "ENST00000553011.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 91,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": null,
"cds_end": null,
"cds_length": 276,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000551630.1",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450131.1",
"strand": false,
"transcript": "ENST00000551630.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 243,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000548945.6",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "n.187G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000548945.6",
"transcript_support_level": 1
},
{
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"aa_ref": null,
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 241,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551425.1",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "n.190+10056G>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000551425.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 366,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000551623.1",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "n.36+10210G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447242.1",
"strand": false,
"transcript": "ENST00000551623.1",
"transcript_support_level": 1
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7663,
"cdna_start": null,
"cds_end": null,
"cds_length": 3891,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001083604.3",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077073.1",
"strand": false,
"transcript": "NM_001083604.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7646,
"cdna_start": null,
"cds_end": null,
"cds_length": 3891,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001083605.3",
"gene_hgnc_id": 9585,
"gene_symbol": "PTCH1",
"hgvs_c": "c.-66G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001077074.1",
"strand": false,
"transcript": "NM_001083605.3",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1296,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7755,
"cdna_start": null,
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