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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: 12-89591227-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=89591227&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 89591227,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_001366524.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "NM_001366521.1",
"protein_id": "NP_001353450.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000428670.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366521.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "ENST00000428670.8",
"protein_id": "ENSP00000392043.3",
"transcript_support_level": 5,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001366521.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000428670.8"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.360G>T",
"hgvs_p": "p.Ser120Ser",
"transcript": "ENST00000550716.1",
"protein_id": "ENSP00000447096.1",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 160,
"cds_start": 360,
"cds_end": null,
"cds_length": 484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550716.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3534G>T",
"hgvs_p": "p.Ser1178Ser",
"transcript": "ENST00000960959.1",
"protein_id": "ENSP00000631018.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3534,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960959.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3534G>T",
"hgvs_p": "p.Ser1178Ser",
"transcript": "ENST00000960960.1",
"protein_id": "ENSP00000631019.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3534,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960960.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3507G>T",
"hgvs_p": "p.Ser1169Ser",
"transcript": "NM_001366524.1",
"protein_id": "NP_001353453.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366524.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3507G>T",
"hgvs_p": "p.Ser1169Ser",
"transcript": "NM_001366525.1",
"protein_id": "NP_001353454.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1249,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366525.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "NM_001366520.1",
"protein_id": "NP_001353449.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366520.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "NM_001366522.1",
"protein_id": "NP_001353451.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366522.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "NM_001413046.1",
"protein_id": "NP_001399975.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413046.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "NM_001413047.1",
"protein_id": "NP_001399976.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413047.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "NM_001682.3",
"protein_id": "NP_001673.2",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001682.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "ENST00000900650.1",
"protein_id": "ENSP00000570709.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900650.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "ENST00000939929.1",
"protein_id": "ENSP00000609988.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939929.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3420G>T",
"hgvs_p": "p.Ser1140Ser",
"transcript": "ENST00000939931.1",
"protein_id": "ENSP00000609990.1",
"transcript_support_level": null,
"aa_start": 1140,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3420,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939931.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3414G>T",
"hgvs_p": "p.Ser1138Ser",
"transcript": "ENST00000939930.1",
"protein_id": "ENSP00000609989.1",
"transcript_support_level": null,
"aa_start": 1138,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3414,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939930.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3381G>T",
"hgvs_p": "p.Ser1127Ser",
"transcript": "NM_001413048.1",
"protein_id": "NP_001399977.1",
"transcript_support_level": null,
"aa_start": 1127,
"aa_end": null,
"aa_length": 1207,
"cds_start": 3381,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413048.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3312G>T",
"hgvs_p": "p.Ser1104Ser",
"transcript": "NM_001413049.1",
"protein_id": "NP_001399978.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413049.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3312G>T",
"hgvs_p": "p.Ser1104Ser",
"transcript": "NM_001413050.1",
"protein_id": "NP_001399979.1",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1184,
"cds_start": 3312,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413050.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3291G>T",
"hgvs_p": "p.Ser1097Ser",
"transcript": "ENST00000960961.1",
"protein_id": "ENSP00000631020.1",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1177,
"cds_start": 3291,
"cds_end": null,
"cds_length": 3534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960961.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3279G>T",
"hgvs_p": "p.Ser1093Ser",
"transcript": "NM_001413051.1",
"protein_id": "NP_001399980.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
"aa_length": 1173,
"cds_start": 3279,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413051.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP2B1",
"gene_hgnc_id": 814,
"hgvs_c": "c.3279G>T",
"hgvs_p": "p.Ser1093Ser",
"transcript": "NM_001413052.1",
"protein_id": "NP_001399981.1",
"transcript_support_level": null,
"aa_start": 1093,
"aa_end": null,
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}