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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: 15-69397475-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=69397475&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 69397475,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_017705.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "NM_017705.4",
"protein_id": "NP_060175.3",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395407.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017705.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000395407.7",
"protein_id": "ENSP00000378803.2",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017705.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395407.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000340965.4",
"protein_id": "ENSP00000343877.3",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340965.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "NM_001104554.2",
"protein_id": "NP_001098024.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001104554.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000561153.5",
"protein_id": "ENSP00000453526.1",
"transcript_support_level": 5,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561153.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000909133.1",
"protein_id": "ENSP00000579192.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909133.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000909134.1",
"protein_id": "ENSP00000579193.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909134.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000909135.1",
"protein_id": "ENSP00000579194.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909135.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000934600.1",
"protein_id": "ENSP00000604659.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934600.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "ENST00000959805.1",
"protein_id": "ENSP00000629864.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000959805.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Glu63Lys",
"transcript": "ENST00000909132.1",
"protein_id": "ENSP00000579191.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 219,
"cds_start": 187,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909132.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.187G>A",
"hgvs_p": "p.Glu63Lys",
"transcript": "ENST00000909136.1",
"protein_id": "ENSP00000579195.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 219,
"cds_start": 187,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000909136.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_011521720.3",
"protein_id": "XP_011520022.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521720.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_017022360.2",
"protein_id": "XP_016877849.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022360.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_017022362.2",
"protein_id": "XP_016877851.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022362.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_024449966.2",
"protein_id": "XP_024305734.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449966.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_047432743.1",
"protein_id": "XP_047288699.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432743.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_047432744.1",
"protein_id": "XP_047288700.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432744.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_047432745.1",
"protein_id": "XP_047288701.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432745.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_047432746.1",
"protein_id": "XP_047288702.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432746.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_047432747.1",
"protein_id": "XP_047288703.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432747.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAQR5",
"gene_hgnc_id": 29645,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Glu174Lys",
"transcript": "XM_047432748.1",
"protein_id": "XP_047288704.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 330,
"cds_start": 520,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432748.1"
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{
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"PP3"
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"verdict": "Uncertain_significance",
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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
}