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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: 1-44635575-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44635575&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44635575,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001376486.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "NM_018150.4",
"protein_id": "NP_060620.2",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 566,
"cds_start": 980,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361799.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018150.4"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "ENST00000361799.7",
"protein_id": "ENSP00000354872.2",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 566,
"cds_start": 980,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018150.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361799.7"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "ENST00000355387.6",
"protein_id": "ENSP00000347548.2",
"transcript_support_level": 1,
"aa_start": 327,
"aa_end": null,
"aa_length": 566,
"cds_start": 980,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000355387.6"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "NM_001376486.1",
"protein_id": "NP_001363415.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376486.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "NM_001376487.1",
"protein_id": "NP_001363416.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376487.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "ENST00000925767.1",
"protein_id": "ENSP00000595826.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 567,
"cds_start": 980,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925767.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "NM_001319956.1",
"protein_id": "NP_001306885.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 566,
"cds_start": 980,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319956.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "NM_001376488.1",
"protein_id": "NP_001363417.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 566,
"cds_start": 980,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376488.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Gln88Arg",
"transcript": "NM_001319957.2",
"protein_id": "NP_001306886.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 353,
"cds_start": 263,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001319957.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.128A>G",
"hgvs_p": "p.Gln43Arg",
"transcript": "NM_001376489.1",
"protein_id": "NP_001363418.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 308,
"cds_start": 128,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376489.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.128A>G",
"hgvs_p": "p.Gln43Arg",
"transcript": "ENST00000335497.11",
"protein_id": "ENSP00000335580.7",
"transcript_support_level": 5,
"aa_start": 43,
"aa_end": null,
"aa_length": 259,
"cds_start": 128,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335497.11"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.128A>G",
"hgvs_p": "p.Gln43Arg",
"transcript": "ENST00000440132.2",
"protein_id": "ENSP00000388533.2",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 258,
"cds_start": 128,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440132.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.146A>G",
"hgvs_p": "p.Gln49Arg",
"transcript": "ENST00000453863.5",
"protein_id": "ENSP00000411541.1",
"transcript_support_level": 3,
"aa_start": 49,
"aa_end": null,
"aa_length": 119,
"cds_start": 146,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453863.5"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_011541698.3",
"protein_id": "XP_011540000.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541698.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_011541699.2",
"protein_id": "XP_011540001.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541699.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_011541700.2",
"protein_id": "XP_011540002.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011541700.2"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_047424269.1",
"protein_id": "XP_047280225.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424269.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_047424277.1",
"protein_id": "XP_047280233.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424277.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_047424280.1",
"protein_id": "XP_047280236.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 592,
"cds_start": 980,
"cds_end": null,
"cds_length": 1779,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424280.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.980A>G",
"hgvs_p": "p.Gln327Arg",
"transcript": "XM_017001625.3",
"protein_id": "XP_016857114.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 566,
"cds_start": 980,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017001625.3"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.263A>G",
"hgvs_p": "p.Gln88Arg",
"transcript": "XM_047424281.1",
"protein_id": "XP_047280237.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 353,
"cds_start": 263,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047424281.1"
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF220",
"gene_hgnc_id": 25552,
"hgvs_c": "c.128A>G",
"hgvs_p": "p.Gln43Arg",
"transcript": "XM_047424282.1",
"protein_id": "XP_047280238.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 282,
"cds_start": 128,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001376486.1",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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},
{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_001738031.2",
"gene_symbol": "LOC107984950",
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"effects": [
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],
"inheritance_mode": "",
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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
}