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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: 6-31154705-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31154705&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31154705,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001394641.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.592C>G",
"hgvs_p": "p.Arg198Gly",
"transcript": "NM_001105564.2",
"protein_id": "NP_001099034.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 871,
"cds_start": 592,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000396268.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105564.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.592C>G",
"hgvs_p": "p.Arg198Gly",
"transcript": "ENST00000396268.8",
"protein_id": "ENSP00000379566.3",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 871,
"cds_start": 592,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105564.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396268.8"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Arg162Gly",
"transcript": "ENST00000451521.6",
"protein_id": "ENSP00000401039.2",
"transcript_support_level": 1,
"aa_start": 162,
"aa_end": null,
"aa_length": 835,
"cds_start": 484,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451521.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "ENST00000376266.9",
"protein_id": "ENSP00000365442.5",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 782,
"cds_start": 325,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376266.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "n.466C>G",
"hgvs_p": null,
"transcript": "ENST00000509552.5",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000509552.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001394641.1",
"protein_id": "NP_001381570.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 880,
"cds_start": 619,
"cds_end": null,
"cds_length": 2643,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394641.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.484C>G",
"hgvs_p": "p.Arg162Gly",
"transcript": "NM_001105563.3",
"protein_id": "NP_001099033.1",
"transcript_support_level": null,
"aa_start": 162,
"aa_end": null,
"aa_length": 835,
"cds_start": 484,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105563.3"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "NM_001394642.1",
"protein_id": "NP_001381571.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 782,
"cds_start": 325,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394642.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "NM_001394643.1",
"protein_id": "NP_001381572.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 782,
"cds_start": 325,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394643.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "NM_001394644.1",
"protein_id": "NP_001381573.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 782,
"cds_start": 325,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394644.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "NM_019052.4",
"protein_id": "NP_061925.2",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 782,
"cds_start": 325,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019052.4"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "NM_001394646.1",
"protein_id": "NP_001381575.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 779,
"cds_start": 325,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394646.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.247C>G",
"hgvs_p": "p.Arg83Gly",
"transcript": "NM_001394647.1",
"protein_id": "NP_001381576.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 756,
"cds_start": 247,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394647.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "NM_001394648.1",
"protein_id": "NP_001381577.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 746,
"cds_start": 217,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394648.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "ENST00000396263.6",
"protein_id": "ENSP00000379561.2",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 729,
"cds_start": 325,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396263.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.619C>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000426967.5",
"protein_id": "ENSP00000402432.1",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 215,
"cds_start": 619,
"cds_end": null,
"cds_length": 650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426967.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "ENST00000448141.6",
"protein_id": "ENSP00000414323.2",
"transcript_support_level": 3,
"aa_start": 73,
"aa_end": null,
"aa_length": 190,
"cds_start": 217,
"cds_end": null,
"cds_length": 574,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448141.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "ENST00000448162.6",
"protein_id": "ENSP00000390027.2",
"transcript_support_level": 5,
"aa_start": 109,
"aa_end": null,
"aa_length": 187,
"cds_start": 325,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000448162.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Arg73Gly",
"transcript": "ENST00000508683.5",
"protein_id": "ENSP00000421393.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 158,
"cds_start": 217,
"cds_end": null,
"cds_length": 479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508683.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "ENST00000507751.5",
"protein_id": "ENSP00000420941.1",
"transcript_support_level": 2,
"aa_start": 109,
"aa_end": null,
"aa_length": 157,
"cds_start": 325,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000507751.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.325C>G",
"hgvs_p": "p.Arg109Gly",
"transcript": "ENST00000455279.6",
"protein_id": "ENSP00000398715.2",
"transcript_support_level": 4,
"aa_start": 109,
"aa_end": null,
"aa_length": 151,
"cds_start": 325,
"cds_end": null,
"cds_length": 458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455279.6"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCHCR1",
"gene_hgnc_id": 13930,
"hgvs_c": "c.247C>G",
"hgvs_p": "p.Arg83Gly",
"transcript": "ENST00000513222.1",
"protein_id": "ENSP00000425682.1",
"transcript_support_level": 4,
"aa_start": 83,
"aa_end": null,
"aa_length": 139,
"cds_start": 247,
"cds_end": null,
"cds_length": 421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513222.1"
},
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}