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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: 17-49619063-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49619063&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49619063,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000504102.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001007228.2",
"protein_id": "NP_001007229.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "ENST00000504102.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000504102.6",
"protein_id": "ENSP00000425905.1",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 629,
"cdna_end": null,
"cdna_length": 2850,
"mane_select": "NM_001007228.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000393328.6",
"protein_id": "ENSP00000377001.2",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 764,
"cdna_end": null,
"cdna_length": 2985,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001007226.1",
"protein_id": "NP_001007227.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 869,
"cdna_end": null,
"cdna_length": 3090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001007227.1",
"protein_id": "NP_001007228.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 747,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001007229.1",
"protein_id": "NP_001007230.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2967,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001007230.1",
"protein_id": "NP_001007231.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 798,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001370730.1",
"protein_id": "NP_001357659.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 918,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001370731.1",
"protein_id": "NP_001357660.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_001370732.1",
"protein_id": "NP_001357661.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "NM_003563.3",
"protein_id": "NP_003554.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000347630.6",
"protein_id": "ENSP00000240327.2",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 746,
"cdna_end": null,
"cdna_length": 2965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000503676.5",
"protein_id": "ENSP00000420908.1",
"transcript_support_level": 2,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 1030,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000509079.6",
"protein_id": "ENSP00000426986.2",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 745,
"cdna_end": null,
"cdna_length": 1860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000514121.6",
"protein_id": "ENSP00000424119.2",
"transcript_support_level": 4,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000665825.1",
"protein_id": "ENSP00000499562.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 2480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000505581.5",
"protein_id": "ENSP00000420960.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 237,
"cds_start": 398,
"cds_end": null,
"cds_length": 714,
"cdna_start": 668,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "ENST00000507970.5",
"protein_id": "ENSP00000426262.1",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 184,
"cds_start": 398,
"cds_end": null,
"cds_length": 557,
"cdna_start": 760,
"cdna_end": null,
"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.398T>G",
"hgvs_p": "p.Phe133Cys",
"transcript": "XM_024450995.2",
"protein_id": "XP_024306763.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 374,
"cds_start": 398,
"cds_end": null,
"cds_length": 1125,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 2739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*341T>G",
"hgvs_p": null,
"transcript": "ENST00000506399.5",
"protein_id": "ENSP00000425604.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 918,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.116T>G",
"hgvs_p": null,
"transcript": "ENST00000509869.5",
"protein_id": "ENSP00000423284.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.*247T>G",
"hgvs_p": null,
"transcript": "ENST00000513080.6",
"protein_id": "ENSP00000499333.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "n.398T>G",
"hgvs_p": null,
"transcript": "ENST00000659760.1",
"protein_id": "ENSP00000499367.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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{
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}
],
"gene_symbol": "SPOP",
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": 0.18,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"PM2",
"PP2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
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"effects": [
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{
"score": 4,
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"verdict": "Uncertain_significance",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}