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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: 6-158111485-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158111485&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158111485,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032861.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1846C>A",
"hgvs_p": "p.Leu616Ile",
"transcript": "NM_032861.4",
"protein_id": "NP_116250.3",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 654,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647468.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032861.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1846C>A",
"hgvs_p": "p.Leu616Ile",
"transcript": "ENST00000647468.2",
"protein_id": "ENSP00000496731.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 654,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032861.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647468.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*3124C>A",
"hgvs_p": null,
"transcript": "ENST00000607742.5",
"protein_id": "ENSP00000475523.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000607742.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*3124C>A",
"hgvs_p": null,
"transcript": "ENST00000607742.5",
"protein_id": "ENSP00000475523.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000607742.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1846C>A",
"hgvs_p": "p.Leu616Ile",
"transcript": "ENST00000941713.1",
"protein_id": "ENSP00000611772.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 654,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941713.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1807C>A",
"hgvs_p": "p.Leu603Ile",
"transcript": "ENST00000941711.1",
"protein_id": "ENSP00000611770.1",
"transcript_support_level": null,
"aa_start": 603,
"aa_end": null,
"aa_length": 641,
"cds_start": 1807,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941711.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1756C>A",
"hgvs_p": "p.Leu586Ile",
"transcript": "ENST00000642244.1",
"protein_id": "ENSP00000493554.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 624,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642244.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1732C>A",
"hgvs_p": "p.Leu578Ile",
"transcript": "ENST00000915172.1",
"protein_id": "ENSP00000585231.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 616,
"cds_start": 1732,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915172.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1717C>A",
"hgvs_p": "p.Leu573Ile",
"transcript": "ENST00000646410.1",
"protein_id": "ENSP00000494205.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 611,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646410.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1714C>A",
"hgvs_p": "p.Leu572Ile",
"transcript": "ENST00000941712.1",
"protein_id": "ENSP00000611771.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 610,
"cds_start": 1714,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941712.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1642C>A",
"hgvs_p": "p.Leu548Ile",
"transcript": "ENST00000915174.1",
"protein_id": "ENSP00000585233.1",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 586,
"cds_start": 1642,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915174.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1582C>A",
"hgvs_p": "p.Leu528Ile",
"transcript": "ENST00000646208.1",
"protein_id": "ENSP00000493723.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 566,
"cds_start": 1582,
"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": "ENST00000646208.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1276C>A",
"hgvs_p": "p.Leu426Ile",
"transcript": "ENST00000915173.1",
"protein_id": "ENSP00000585232.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 464,
"cds_start": 1276,
"cds_end": null,
"cds_length": 1395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915173.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1846C>A",
"hgvs_p": "p.Leu616Ile",
"transcript": "XM_024446573.2",
"protein_id": "XP_024302341.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 654,
"cds_start": 1846,
"cds_end": null,
"cds_length": 1965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446573.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1825C>A",
"hgvs_p": "p.Leu609Ile",
"transcript": "XM_047419421.1",
"protein_id": "XP_047275377.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 647,
"cds_start": 1825,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419421.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1636C>A",
"hgvs_p": "p.Leu546Ile",
"transcript": "XM_006715586.4",
"protein_id": "XP_006715649.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 584,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715586.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.1636C>A",
"hgvs_p": "p.Leu546Ile",
"transcript": "XM_011536198.4",
"protein_id": "XP_011534500.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 584,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011536198.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "c.*1923C>A",
"hgvs_p": null,
"transcript": "ENST00000644972.1",
"protein_id": "ENSP00000496451.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 622,
"cds_start": null,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*1566C>A",
"hgvs_p": null,
"transcript": "ENST00000607071.6",
"protein_id": "ENSP00000475855.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000607071.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*3413C>A",
"hgvs_p": null,
"transcript": "ENST00000645077.1",
"protein_id": "ENSP00000496113.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000645077.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.*1548C>A",
"hgvs_p": null,
"transcript": "ENST00000645172.1",
"protein_id": "ENSP00000495367.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000645172.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SERAC1",
"gene_hgnc_id": 21061,
"hgvs_c": "n.3177C>A",
"hgvs_p": null,
"transcript": "ENST00000646190.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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],
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2459898293018341,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.09000000357627869,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0798,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.258,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.09,
"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032861.4",
"gene_symbol": "SERAC1",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": 0,
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.575G>T",
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}
],
"clinvar_disease": " and Leigh-like syndrome, encephalopathy,3-methylglutaconic aciduria with deafness",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}