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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: 3-128069515-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=128069515&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 128069515,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000243253.8",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Ile428Met",
"transcript": "NM_013336.4",
"protein_id": "NP_037468.1",
"transcript_support_level": null,
"aa_start": 428,
"aa_end": null,
"aa_length": 476,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": "ENST00000243253.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1284C>G",
"hgvs_p": "p.Ile428Met",
"transcript": "ENST00000243253.8",
"protein_id": "ENSP00000243253.3",
"transcript_support_level": 1,
"aa_start": 428,
"aa_end": null,
"aa_length": 476,
"cds_start": 1284,
"cds_end": null,
"cds_length": 1431,
"cdna_start": 1400,
"cdna_end": null,
"cdna_length": 3568,
"mane_select": "NM_013336.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*775C>G",
"hgvs_p": null,
"transcript": "ENST00000483956.2",
"protein_id": "ENSP00000514247.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*775C>G",
"hgvs_p": null,
"transcript": "ENST00000483956.2",
"protein_id": "ENSP00000514247.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1311C>G",
"hgvs_p": "p.Ile437Met",
"transcript": "ENST00000699273.1",
"protein_id": "ENSP00000514253.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 485,
"cds_start": 1311,
"cds_end": null,
"cds_length": 1458,
"cdna_start": 1480,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1302C>G",
"hgvs_p": "p.Ile434Met",
"transcript": "NM_001400328.1",
"protein_id": "NP_001387257.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 482,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1302C>G",
"hgvs_p": "p.Ile434Met",
"transcript": "ENST00000464451.5",
"protein_id": "ENSP00000418493.1",
"transcript_support_level": 2,
"aa_start": 434,
"aa_end": null,
"aa_length": 482,
"cds_start": 1302,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1547,
"cdna_end": null,
"cdna_length": 1871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1125C>G",
"hgvs_p": "p.Ile375Met",
"transcript": "NM_001400329.1",
"protein_id": "NP_001387258.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 423,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1332,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.1125C>G",
"hgvs_p": "p.Ile375Met",
"transcript": "ENST00000481210.6",
"protein_id": "ENSP00000419172.2",
"transcript_support_level": 5,
"aa_start": 375,
"aa_end": null,
"aa_length": 423,
"cds_start": 1125,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.924C>G",
"hgvs_p": "p.Ile308Met",
"transcript": "ENST00000424880.2",
"protein_id": "ENSP00000411445.2",
"transcript_support_level": 2,
"aa_start": 308,
"aa_end": null,
"aa_length": 356,
"cds_start": 924,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1076,
"cdna_end": null,
"cdna_length": 3238,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.894C>G",
"hgvs_p": "p.Ile298Met",
"transcript": "ENST00000699269.1",
"protein_id": "ENSP00000514249.1",
"transcript_support_level": null,
"aa_start": 298,
"aa_end": null,
"aa_length": 346,
"cds_start": 894,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1063,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.1623C>G",
"hgvs_p": null,
"transcript": "ENST00000491668.2",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.319C>G",
"hgvs_p": null,
"transcript": "ENST00000498837.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 555,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.3239C>G",
"hgvs_p": null,
"transcript": "ENST00000699268.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5354,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*680C>G",
"hgvs_p": null,
"transcript": "ENST00000699270.1",
"protein_id": "ENSP00000514250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3742,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*1380C>G",
"hgvs_p": null,
"transcript": "ENST00000699271.1",
"protein_id": "ENSP00000514251.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*1147C>G",
"hgvs_p": null,
"transcript": "ENST00000699272.1",
"protein_id": "ENSP00000514252.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*1214C>G",
"hgvs_p": null,
"transcript": "ENST00000699274.1",
"protein_id": "ENSP00000514254.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*1154C>G",
"hgvs_p": null,
"transcript": "ENST00000699275.1",
"protein_id": "ENSP00000514255.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.1693C>G",
"hgvs_p": null,
"transcript": "ENST00000699283.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.2005C>G",
"hgvs_p": null,
"transcript": "ENST00000699284.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "c.*1452C>G",
"hgvs_p": null,
"transcript": "ENST00000699267.1",
"protein_id": "ENSP00000514248.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 415,
"cds_start": -4,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC61A1",
"gene_hgnc_id": 18276,
"hgvs_c": "n.*680C>G",
"hgvs_p": null,
"transcript": "ENST00000699270.1",
"protein_id": "ENSP00000514250.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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{
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"PP5"
],
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{
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"PP5"
],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}