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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: 17-75569090-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75569090&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75569090,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001031803.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "NM_001031803.2",
"protein_id": "NP_001026973.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000392550.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031803.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000392550.8",
"protein_id": "ENSP00000376333.4",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001031803.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392550.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000577200.5",
"protein_id": "ENSP00000464397.1",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577200.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000167462.9",
"protein_id": "ENSP00000167462.5",
"transcript_support_level": 1,
"aa_start": 479,
"aa_end": null,
"aa_length": 1015,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3048,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000167462.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1477T>C",
"hgvs_p": "p.Phe493Leu",
"transcript": "ENST00000956282.1",
"protein_id": "ENSP00000626341.1",
"transcript_support_level": null,
"aa_start": 493,
"aa_end": null,
"aa_length": 1034,
"cds_start": 1477,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956282.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000956283.1",
"protein_id": "ENSP00000626342.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1032,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956283.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1456T>C",
"hgvs_p": "p.Phe486Leu",
"transcript": "ENST00000910111.1",
"protein_id": "ENSP00000580170.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 1027,
"cds_start": 1456,
"cds_end": null,
"cds_length": 3084,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910111.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910109.1",
"protein_id": "ENSP00000580168.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1024,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910109.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910112.1",
"protein_id": "ENSP00000580171.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1024,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3075,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910112.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910110.1",
"protein_id": "ENSP00000580169.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910110.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910116.1",
"protein_id": "ENSP00000580175.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1023,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910116.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910106.1",
"protein_id": "ENSP00000580165.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910106.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910115.1",
"protein_id": "ENSP00000580174.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910115.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910117.1",
"protein_id": "ENSP00000580176.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910117.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000933826.1",
"protein_id": "ENSP00000603885.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933826.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000956285.1",
"protein_id": "ENSP00000626344.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956285.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000956287.1",
"protein_id": "ENSP00000626346.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956287.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000956291.1",
"protein_id": "ENSP00000626350.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956291.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910107.1",
"protein_id": "ENSP00000580166.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910107.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000910113.1",
"protein_id": "ENSP00000580172.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910113.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000933828.1",
"protein_id": "ENSP00000603887.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1019,
"cds_start": 1435,
"cds_end": null,
"cds_length": 3060,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933828.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.1435T>C",
"hgvs_p": "p.Phe479Leu",
"transcript": "ENST00000933830.1",
"protein_id": "ENSP00000603889.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 1019,
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{
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{
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],
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"computational_score_selected": 7.281976763806597e-7,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BA1"
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"verdict": "Benign",
"transcript": "NM_001031803.2",
"gene_symbol": "LLGL2",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
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"custom_annotations": null
}
],
"message": null
}