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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: 15-72265918-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=72265918&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 72265918,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001323525.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323532.2",
"protein_id": "NP_001310461.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000569795.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323532.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000569795.6",
"protein_id": "ENSP00000456348.1",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001323532.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569795.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.11G>T",
"hgvs_p": "p.Ser4Ile",
"transcript": "ENST00000567974.5",
"protein_id": "ENSP00000455815.1",
"transcript_support_level": 1,
"aa_start": 4,
"aa_end": null,
"aa_length": 563,
"cds_start": 11,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567974.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000419739.7",
"protein_id": "ENSP00000403265.3",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 552,
"cds_start": 155,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419739.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "n.358G>T",
"hgvs_p": null,
"transcript": "ENST00000544520.5",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000544520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "n.11G>T",
"hgvs_p": null,
"transcript": "ENST00000564610.5",
"protein_id": "ENSP00000456468.1",
"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": "ENST00000564610.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000952258.1",
"protein_id": "ENSP00000622317.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 634,
"cds_start": 155,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952258.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000952260.1",
"protein_id": "ENSP00000622319.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 634,
"cds_start": 155,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952260.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323525.2",
"protein_id": "NP_001310454.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 631,
"cds_start": 155,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323525.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323528.2",
"protein_id": "NP_001310457.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 631,
"cds_start": 155,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323528.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323531.2",
"protein_id": "NP_001310460.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 631,
"cds_start": 155,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323531.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323522.2",
"protein_id": "NP_001310451.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323522.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_020214.4",
"protein_id": "NP_064599.2",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020214.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000287196.13",
"protein_id": "ENSP00000287196.9",
"transcript_support_level": 5,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287196.13"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000907970.1",
"protein_id": "ENSP00000578029.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907970.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000907971.1",
"protein_id": "ENSP00000578030.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907971.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000907972.1",
"protein_id": "ENSP00000578031.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907972.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000907975.1",
"protein_id": "ENSP00000578034.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907975.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000952263.1",
"protein_id": "ENSP00000622322.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952263.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "ENST00000952264.1",
"protein_id": "ENSP00000622323.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 630,
"cds_start": 155,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952264.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323515.2",
"protein_id": "NP_001310444.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 611,
"cds_start": 155,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323515.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARP6",
"gene_hgnc_id": 26921,
"hgvs_c": "c.155G>T",
"hgvs_p": "p.Ser52Ile",
"transcript": "NM_001323516.2",
"protein_id": "NP_001310445.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 611,
"cds_start": 155,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001323516.2"
},
{
"aa_ref": "S",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"verdict": "Uncertain_significance",
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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
}