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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: 7-128945875-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=128945875&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 128945875,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001098629.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001098629.3",
"protein_id": "NP_001092099.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "ENST00000357234.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000357234.10",
"protein_id": "ENSP00000349770.5",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": "NM_001098629.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000402030.6",
"protein_id": "ENSP00000385352.2",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 2786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000477535.5",
"protein_id": "ENSP00000419950.1",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 412,
"cds_start": 226,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 1374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001347928.2",
"protein_id": "NP_001334857.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 471,
"cdna_end": null,
"cdna_length": 3010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001364314.2",
"protein_id": "NP_001351243.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000489702.6",
"protein_id": "ENSP00000418037.2",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 460,
"cdna_end": null,
"cdna_length": 2988,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001098627.4",
"protein_id": "NP_001092097.2",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 443,
"cdna_end": null,
"cdna_length": 2934,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001098630.3",
"protein_id": "NP_001092100.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_032643.5",
"protein_id": "NP_116032.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000473745.5",
"protein_id": "ENSP00000419149.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 2282,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "NM_001242452.3",
"protein_id": "NP_001229381.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 412,
"cds_start": 226,
"cds_end": null,
"cds_length": 1239,
"cdna_start": 360,
"cdna_end": null,
"cdna_length": 2593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000479582.5",
"protein_id": "ENSP00000417770.1",
"transcript_support_level": 5,
"aa_start": 76,
"aa_end": null,
"aa_length": 140,
"cds_start": 226,
"cds_end": null,
"cds_length": 425,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "ENST00000464557.5",
"protein_id": "ENSP00000419056.1",
"transcript_support_level": 4,
"aa_start": 76,
"aa_end": null,
"aa_length": 105,
"cds_start": 226,
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"cdna_start": 461,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_006715974.3",
"protein_id": "XP_006716037.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
"cds_length": 1545,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2805,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_011516158.4",
"protein_id": "XP_011514460.1",
"transcript_support_level": null,
"aa_start": 76,
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"cdna_start": 443,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_011516159.4",
"protein_id": "XP_011514461.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
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"cdna_start": 2503,
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"cdna_length": 5042,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_011516160.2",
"protein_id": "XP_011514462.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
"cds_start": 226,
"cds_end": null,
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"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_047420336.1",
"protein_id": "XP_047276292.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 514,
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},
{
"aa_ref": "E",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_047420337.1",
"protein_id": "XP_047276293.1",
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"aa_start": 76,
"aa_end": null,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_047420338.1",
"protein_id": "XP_047276294.1",
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"aa_start": 76,
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"cds_start": 226,
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"cdna_start": 1040,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_047420339.1",
"protein_id": "XP_047276295.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 498,
"cds_start": 226,
"cds_end": null,
"cds_length": 1497,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF5",
"gene_hgnc_id": 6120,
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Glu76Lys",
"transcript": "XM_047420340.1",
"protein_id": "XP_047276296.1",
"transcript_support_level": null,
"aa_start": 76,
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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
}