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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: 10-110133597-AAAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=110133597&ref=AAAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 110133597,
"ref": "AAAG",
"alt": "A",
"effect": "conservative_inframe_deletion",
"transcript": "ENST00000356080.9",
"consequences": [
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "NM_016824.5",
"protein_id": "NP_058432.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": "ENST00000356080.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "ENST00000356080.9",
"protein_id": "ENSP00000348381.4",
"transcript_support_level": 1,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2446,
"cdna_end": null,
"cdna_length": 4413,
"mane_select": "NM_016824.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2005_2007delAAG",
"hgvs_p": "p.Lys669del",
"transcript": "ENST00000277900.12",
"protein_id": "ENSP00000277900.8",
"transcript_support_level": 1,
"aa_start": 669,
"aa_end": null,
"aa_length": 674,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2370,
"cdna_end": null,
"cdna_length": 4337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2005_2007delAAG",
"hgvs_p": "p.Lys669del",
"transcript": "ENST00000360162.7",
"protein_id": "ENSP00000353286.3",
"transcript_support_level": 1,
"aa_start": 669,
"aa_end": null,
"aa_length": 674,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2382,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "NM_001320591.2",
"protein_id": "NP_001307520.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2392,
"cdna_end": null,
"cdna_length": 4359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "NM_001320592.2",
"protein_id": "NP_001307521.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2335,
"cdna_end": null,
"cdna_length": 4302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "NM_001320593.2",
"protein_id": "NP_001307522.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2331,
"cdna_end": null,
"cdna_length": 4298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2005_2007delAAG",
"hgvs_p": "p.Lys669del",
"transcript": "NM_001121.4",
"protein_id": "NP_001112.2",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 674,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2350,
"cdna_end": null,
"cdna_length": 4317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2005_2007delAAG",
"hgvs_p": "p.Lys669del",
"transcript": "NM_019903.5",
"protein_id": "NP_063968.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 674,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 2239,
"cdna_end": null,
"cdna_length": 4206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.1867_1869delAAG",
"hgvs_p": "p.Lys623del",
"transcript": "NM_001320594.2",
"protein_id": "NP_001307523.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 628,
"cds_start": 1867,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 2500,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447794.2",
"protein_id": "XP_024303562.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2263,
"cdna_end": null,
"cdna_length": 4230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447795.1",
"protein_id": "XP_024303563.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2504,
"cdna_end": null,
"cdna_length": 4471,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447796.2",
"protein_id": "XP_024303564.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2596,
"cdna_end": null,
"cdna_length": 4563,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447797.2",
"protein_id": "XP_024303565.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
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"cdna_start": 2393,
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"cdna_length": 4360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447798.1",
"protein_id": "XP_024303566.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2205,
"cdna_end": null,
"cdna_length": 4172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447799.2",
"protein_id": "XP_024303567.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
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"cdna_start": 2204,
"cdna_end": null,
"cdna_length": 4171,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447800.2",
"protein_id": "XP_024303568.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2882,
"cdna_end": null,
"cdna_length": 4849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447801.1",
"protein_id": "XP_024303569.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
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"cdna_start": 2538,
"cdna_end": null,
"cdna_length": 4505,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_024447802.2",
"protein_id": "XP_024303570.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
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"cds_start": 2101,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_047424587.1",
"protein_id": "XP_047280543.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
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"cdna_start": 2262,
"cdna_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_047424588.1",
"protein_id": "XP_047280544.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2354,
"cdna_end": null,
"cdna_length": 4321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADD3",
"gene_hgnc_id": 245,
"hgvs_c": "c.2101_2103delAAG",
"hgvs_p": "p.Lys701del",
"transcript": "XM_047424589.1",
"protein_id": "XP_047280545.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 706,
"cds_start": 2101,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2940,
"cdna_end": null,
"cdna_length": 4907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"conservative_inframe_deletion"
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],
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"acmg_score": 3,
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"acmg_by_gene": [
{
"score": 3,
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"PM4_Supporting"
],
"verdict": "Uncertain_significance",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}