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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: 19-42521983-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=42521983&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 42521983,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001712.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "NM_001712.5",
"protein_id": "NP_001703.2",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 526,
"cds_start": 644,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000161559.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001712.5"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000161559.11",
"protein_id": "ENSP00000161559.6",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 526,
"cds_start": 644,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001712.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000161559.11"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000403444.7",
"protein_id": "ENSP00000384709.3",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 464,
"cds_start": 644,
"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": "ENST00000403444.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000358394.7",
"protein_id": "ENSP00000351165.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 461,
"cds_start": 644,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358394.7"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000352591.9",
"protein_id": "ENSP00000244291.6",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 430,
"cds_start": 644,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352591.9"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000403461.5",
"protein_id": "ENSP00000384083.1",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 368,
"cds_start": 644,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403461.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "n.719G>A",
"hgvs_p": null,
"transcript": "ENST00000344391.9",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000344391.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "n.739G>A",
"hgvs_p": null,
"transcript": "ENST00000377806.7",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000377806.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "n.739G>A",
"hgvs_p": null,
"transcript": "ENST00000403136.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000403136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.1143-9C>T",
"hgvs_p": null,
"transcript": "ENST00000457234.2",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000457234.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LIPE-AS1",
"gene_hgnc_id": 48589,
"hgvs_c": "n.233+36760C>T",
"hgvs_p": null,
"transcript": "ENST00000594624.8",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000594624.8"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "NM_001205344.2",
"protein_id": "NP_001192273.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 468,
"cds_start": 644,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001205344.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000867318.1",
"protein_id": "ENSP00000537377.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 465,
"cds_start": 644,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867318.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "NM_001024912.3",
"protein_id": "NP_001020083.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 464,
"cds_start": 644,
"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": "NM_001024912.3"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "NM_001184815.2",
"protein_id": "NP_001171744.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 461,
"cds_start": 644,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184815.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000867317.1",
"protein_id": "ENSP00000537376.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 461,
"cds_start": 644,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867317.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "NM_001184813.2",
"protein_id": "NP_001171742.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 430,
"cds_start": 644,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184813.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000599389.1",
"protein_id": "ENSP00000471918.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 399,
"cds_start": 644,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599389.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "NM_001184816.2",
"protein_id": "NP_001171745.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 368,
"cds_start": 644,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001184816.2"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "ENST00000926894.1",
"protein_id": "ENSP00000596953.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 345,
"cds_start": 644,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926894.1"
},
{
"aa_ref": "C",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr",
"transcript": "XM_011527206.3",
"protein_id": "XP_011525508.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 351,
"cds_start": 644,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011527206.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CEACAM1",
"gene_hgnc_id": 1814,
"hgvs_c": "c.424+5058G>A",
"hgvs_p": null,
"transcript": "ENST00000867319.1",
"protein_id": "ENSP00000537378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 252,
"cds_start": null,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867319.1"
},
{
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],
"gene_symbol": "CEACAM1",
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"dbsnp": "rs770368881",
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9795524477958679,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.343,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8605,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.431,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001712.5",
"gene_symbol": "CEACAM1",
"hgnc_id": 1814,
"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.644G>A",
"hgvs_p": "p.Cys215Tyr"
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{
"score": 6,
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"pathogenic_score": 6,
"criteria": [
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"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000457234.2",
"gene_symbol": "LIPE-AS1",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.1143-9C>T",
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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
}