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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: 17-75556095-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75556095&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75556095,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001031803.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "NM_001031803.2",
"protein_id": "NP_001026973.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000392550.8",
"protein_id": "ENSP00000376333.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000577200.5",
"protein_id": "ENSP00000464397.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 1019,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000167462.9",
"protein_id": "ENSP00000167462.5",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 1015,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"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": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000375227.8",
"protein_id": "ENSP00000364375.4",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 356,
"cds_start": 125,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375227.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000578363.5",
"protein_id": "ENSP00000464603.1",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 356,
"cds_start": 125,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000578363.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.-74C>T",
"hgvs_p": null,
"transcript": "XM_047435997.1",
"protein_id": "XP_047291953.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 958,
"cds_start": null,
"cds_end": null,
"cds_length": 2877,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047435997.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.167C>T",
"hgvs_p": "p.Pro56Leu",
"transcript": "ENST00000956282.1",
"protein_id": "ENSP00000626341.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 1034,
"cds_start": 167,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000956283.1",
"protein_id": "ENSP00000626342.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1032,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910111.1",
"protein_id": "ENSP00000580170.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1027,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910109.1",
"protein_id": "ENSP00000580168.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1024,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910112.1",
"protein_id": "ENSP00000580171.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1024,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910110.1",
"protein_id": "ENSP00000580169.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1023,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910116.1",
"protein_id": "ENSP00000580175.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1023,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000956281.1",
"protein_id": "ENSP00000626340.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1021,
"cds_start": 125,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956281.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910106.1",
"protein_id": "ENSP00000580165.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910115.1",
"protein_id": "ENSP00000580174.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000910117.1",
"protein_id": "ENSP00000580176.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000933826.1",
"protein_id": "ENSP00000603885.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000956285.1",
"protein_id": "ENSP00000626344.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000956287.1",
"protein_id": "ENSP00000626346.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"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": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LLGL2",
"gene_hgnc_id": 6629,
"hgvs_c": "c.125C>T",
"hgvs_p": "p.Pro42Leu",
"transcript": "ENST00000956291.1",
"protein_id": "ENSP00000626350.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 1020,
"cds_start": 125,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"dbsnp": "rs142615248",
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"computational_score_selected": 0.03495714068412781,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.268,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.24,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_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": "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
}