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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: 2-151411277-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=151411277&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 151411277,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018151.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_018151.5",
"protein_id": "NP_060621.3",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2472,
"cds_start": 122,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 14662,
"mane_select": "ENST00000444746.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000444746.7",
"protein_id": "ENSP00000390181.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 2472,
"cds_start": 122,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 14662,
"mane_select": "NM_018151.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000243326.9",
"protein_id": "ENSP00000243326.4",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 2472,
"cds_start": 122,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 15003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000428287.6",
"protein_id": "ENSP00000415691.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 2446,
"cds_start": 122,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 186,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000430328.6",
"protein_id": "ENSP00000416123.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 2446,
"cds_start": 122,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 456,
"cdna_end": null,
"cdna_length": 7992,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "ENST00000453091.6",
"protein_id": "ENSP00000414615.2",
"transcript_support_level": 1,
"aa_start": 41,
"aa_end": null,
"aa_length": 2446,
"cds_start": 122,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 8053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.95A>G",
"hgvs_p": "p.Glu32Gly",
"transcript": "ENST00000414861.6",
"protein_id": "ENSP00000390486.2",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 843,
"cds_start": 95,
"cds_end": null,
"cds_length": 2533,
"cdna_start": 96,
"cdna_end": null,
"cdna_length": 2534,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001177663.2",
"protein_id": "NP_001171134.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2446,
"cds_start": 122,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 14584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001177664.2",
"protein_id": "NP_001171135.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2446,
"cds_start": 122,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 14490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "NM_001177665.2",
"protein_id": "NP_001171136.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2446,
"cds_start": 122,
"cds_end": null,
"cds_length": 7341,
"cdna_start": 644,
"cdna_end": null,
"cdna_length": 14964,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_005246665.4",
"protein_id": "XP_005246722.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2472,
"cds_start": 122,
"cds_end": null,
"cds_length": 7419,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 14568,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_017004422.2",
"protein_id": "XP_016859911.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2464,
"cds_start": 122,
"cds_end": null,
"cds_length": 7395,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 14638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444867.1",
"protein_id": "XP_047300823.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2464,
"cds_start": 122,
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"cds_length": 7395,
"cdna_start": 170,
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"cdna_length": 14544,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_017004423.2",
"protein_id": "XP_016859912.1",
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"aa_start": 41,
"aa_end": null,
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"biotype": null,
"feature": null
},
{
"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": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444868.1",
"protein_id": "XP_047300824.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2441,
"cds_start": 122,
"cds_end": null,
"cds_length": 7326,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 14569,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444869.1",
"protein_id": "XP_047300825.1",
"transcript_support_level": null,
"aa_start": 41,
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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": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444870.1",
"protein_id": "XP_047300826.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 2438,
"cds_start": 122,
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"cdna_start": 264,
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"cdna_length": 14560,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.14A>G",
"hgvs_p": "p.Glu5Gly",
"transcript": "XM_017004424.2",
"protein_id": "XP_016859913.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2436,
"cds_start": 14,
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"cds_length": 7311,
"cdna_start": 150,
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"mane_select": null,
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"biotype": null,
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},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
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"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.14A>G",
"hgvs_p": "p.Glu5Gly",
"transcript": "XM_047444871.1",
"protein_id": "XP_047300827.1",
"transcript_support_level": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444872.1",
"protein_id": "XP_047300828.1",
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444873.1",
"protein_id": "XP_047300829.1",
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"cdna_start": 170,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.14A>G",
"hgvs_p": "p.Glu5Gly",
"transcript": "XM_047444874.1",
"protein_id": "XP_047300830.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 2428,
"cds_start": 14,
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"cds_length": 7287,
"cdna_start": 56,
"cdna_end": null,
"cdna_length": 14430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RIF1",
"gene_hgnc_id": 23207,
"hgvs_c": "c.122A>G",
"hgvs_p": "p.Glu41Gly",
"transcript": "XM_047444875.1",
"protein_id": "XP_047300831.1",
"transcript_support_level": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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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
}