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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": "NM_001370303.1",
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262482.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015528.3"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015528.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262482.11"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575111.5"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370303.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370304.1"
},
{
"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": "ENST00000868718.1",
"protein_id": "ENSP00000538777.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 374,
"cds_start": 905,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868718.1"
},
{
"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.905delG",
"hgvs_p": "p.Gly302fs",
"transcript": "ENST00000868721.1",
"protein_id": "ENSP00000538780.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 374,
"cds_start": 905,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868721.1"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320356.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320357.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320358.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320359.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320360.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320361.2"
},
{
"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": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370305.1"
},
{
"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,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375485.1"
},
{
"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": "ENST00000571816.5",
"protein_id": "ENSP00000459324.1",
"transcript_support_level": 5,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000571816.5"
},
{
"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": "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,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572430.5"
},
{
"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": "ENST00000868717.1",
"protein_id": "ENSP00000538776.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868717.1"
},
{
"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": "ENST00000868720.1",
"protein_id": "ENSP00000538779.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 350,
"cds_start": 833,
"cds_end": null,
"cds_length": 1053,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868720.1"
},
{
"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.830delG",
"hgvs_p": "p.Gly277fs",
"transcript": "NM_001370306.1",
"protein_id": "NP_001357235.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 349,
"cds_start": 830,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370306.1"
},
{
"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.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,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370307.1"
},
{
"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.830delG",
"hgvs_p": "p.Gly277fs",
"transcript": "ENST00000868719.1",
"protein_id": "ENSP00000538778.1",
"transcript_support_level": null,
"aa_start": 277,
"aa_end": null,
"aa_length": 349,
"cds_start": 830,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868719.1"
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"hgvs_c": "n.*192delG",
"hgvs_p": null,
"transcript": "ENST00000570492.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000570492.5"
}
],
"gene_symbol": "RNF167",
"gene_hgnc_id": 24544,
"dbsnp": "rs1057519428",
"frequency_reference_population": 0.0000013698592,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136986,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0.563,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001370303.1",
"gene_symbol": "RNF167",
"hgnc_id": 24544,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.905delG",
"hgvs_p": "p.Gly302fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}