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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: 9-41183584-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=41183584&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 41183584,
"ref": "A",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001085457.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_001085457.2",
"protein_id": "NP_001078926.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 395,
"cds_start": 318,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000377391.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001085457.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000377391.8",
"protein_id": "ENSP00000366608.4",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 395,
"cds_start": 318,
"cds_end": null,
"cds_length": 1188,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001085457.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377391.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000456520.5",
"protein_id": "ENSP00000401079.2",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 376,
"cds_start": 318,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000456520.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.186T>G",
"hgvs_p": null,
"transcript": "ENST00000382436.7",
"protein_id": "ENSP00000484049.1",
"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": "ENST00000382436.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.318T>G",
"hgvs_p": null,
"transcript": "ENST00000486387.6",
"protein_id": "ENSP00000480837.1",
"transcript_support_level": 2,
"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": "ENST00000486387.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.318T>G",
"hgvs_p": null,
"transcript": "ENST00000494538.6",
"protein_id": "ENSP00000484231.1",
"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": "ENST00000494538.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*239T>G",
"hgvs_p": null,
"transcript": "ENST00000613716.5",
"protein_id": "ENSP00000482804.2",
"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": "ENST00000613716.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "n.*239T>G",
"hgvs_p": null,
"transcript": "ENST00000613716.5",
"protein_id": "ENSP00000482804.2",
"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": "ENST00000613716.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_001439294.1",
"protein_id": "NP_001426223.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 390,
"cds_start": 318,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439294.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894103.1",
"protein_id": "ENSP00000564162.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 390,
"cds_start": 318,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894103.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_001386876.1",
"protein_id": "NP_001373805.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 375,
"cds_start": 318,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386876.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894098.1",
"protein_id": "ENSP00000564157.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 375,
"cds_start": 318,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894098.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894100.1",
"protein_id": "ENSP00000564159.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 364,
"cds_start": 318,
"cds_end": null,
"cds_length": 1095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894100.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894105.1",
"protein_id": "ENSP00000564164.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 361,
"cds_start": 318,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894105.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894104.1",
"protein_id": "ENSP00000564163.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 360,
"cds_start": 318,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894104.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_001439295.1",
"protein_id": "NP_001426224.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 356,
"cds_start": 318,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439295.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894099.1",
"protein_id": "ENSP00000564158.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 356,
"cds_start": 318,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894099.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "NM_001386877.1",
"protein_id": "NP_001373806.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 346,
"cds_start": 318,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386877.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894097.1",
"protein_id": "ENSP00000564156.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 346,
"cds_start": 318,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894097.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894101.1",
"protein_id": "ENSP00000564160.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 341,
"cds_start": 318,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894101.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000958079.1",
"protein_id": "ENSP00000628138.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 331,
"cds_start": 318,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958079.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNG1F",
"gene_hgnc_id": 31978,
"hgvs_c": "c.318T>G",
"hgvs_p": "p.Gly106Gly",
"transcript": "ENST00000894102.1",
"protein_id": "ENSP00000564161.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 327,
"cds_start": 318,
"cds_end": null,
"cds_length": 984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894102.1"
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"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000617940.2",
"gene_symbol": "FRG1HP",
"hgnc_id": 51767,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.412-11517A>C",
"hgvs_p": null
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}