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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: 17-4944792-CG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4944792&ref=CG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4944792,
"ref": "CG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000262482.11",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_015528.3",
"protein_id": "NP_056343.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": "ENST00000262482.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "ENST00000262482.11",
"protein_id": "ENSP00000262482.6",
"transcript_support_level": 2,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1349,
"cdna_end": null,
"cdna_length": 1775,
"mane_select": "NM_015528.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "ENST00000575111.5",
"protein_id": "ENSP00000460190.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 1757,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.905delG",
"hgvs_p": "p.Gly302fs",
"transcript": "NM_001370303.1",
"protein_id": "NP_001357232.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 374,
"cds_start": 905,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1467,
"cdna_end": null,
"cdna_length": 1893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.905delG",
"hgvs_p": "p.Gly302fs",
"transcript": "NM_001370304.1",
"protein_id": "NP_001357233.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 374,
"cds_start": 905,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001320356.2",
"protein_id": "NP_001307285.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 1675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001320357.2",
"protein_id": "NP_001307286.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 963,
"cdna_end": null,
"cdna_length": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001320358.2",
"protein_id": "NP_001307287.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1009,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001320359.2",
"protein_id": "NP_001307288.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1165,
"cdna_end": null,
"cdna_length": 1591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001320360.2",
"protein_id": "NP_001307289.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001320361.2",
"protein_id": "NP_001307290.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1203,
"cdna_end": null,
"cdna_length": 1629,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001370305.1",
"protein_id": "NP_001357234.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 1087,
"cdna_end": null,
"cdna_length": 1513,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "NM_001375485.1",
"protein_id": "NP_001362414.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
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"cds_length": 1053,
"cdna_start": 1651,
"cdna_end": null,
"cdna_length": 2077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "ENST00000571816.5",
"protein_id": "ENSP00000459324.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
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"exon_count": 11,
"intron_rank": null,
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"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.833delG",
"hgvs_p": "p.Gly278fs",
"transcript": "ENST00000572430.5",
"protein_id": "ENSP00000458794.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
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"cdna_start": 1137,
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"cdna_length": 1511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.830delG",
"hgvs_p": "p.Gly277fs",
"transcript": "NM_001370306.1",
"protein_id": "NP_001357235.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
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"cds_start": 830,
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},
{
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"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.830delG",
"hgvs_p": "p.Gly277fs",
"transcript": "NM_001370307.1",
"protein_id": "NP_001357236.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 349,
"cds_start": 830,
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"cdna_start": 1346,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.800delG",
"hgvs_p": "p.Gly267fs",
"transcript": "NM_001370308.1",
"protein_id": "NP_001357237.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 339,
"cds_start": 800,
"cds_end": null,
"cds_length": 1020,
"cdna_start": 1225,
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"cdna_length": 1651,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.728delG",
"hgvs_p": "p.Gly243fs",
"transcript": "NM_001320362.2",
"protein_id": "NP_001307291.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 10,
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"exon_count": 10,
"intron_rank": null,
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"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.728delG",
"hgvs_p": "p.Gly243fs",
"transcript": "NM_001320363.2",
"protein_id": "NP_001307292.1",
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"aa_end": null,
"aa_length": 315,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.728delG",
"hgvs_p": "p.Gly243fs",
"transcript": "NM_001320364.2",
"protein_id": "NP_001307293.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.728delG",
"hgvs_p": "p.Gly243fs",
"transcript": "NM_001320365.2",
"protein_id": "NP_001307294.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 315,
"cds_start": 728,
"cds_end": null,
"cds_length": 948,
"cdna_start": 1153,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"hgvs_c": "c.728delG",
"hgvs_p": "p.Gly243fs",
"transcript": "NM_001370311.1",
"protein_id": "NP_001357240.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 315,
"cds_start": 728,
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}
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"acmg_by_gene": [
{
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"verdict": "Uncertain_significance",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}