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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: 1-235830275-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=235830275&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LYST",
"hgnc_id": 1968,
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_000081.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1",
"acmg_score": -8,
"allele_count_reference_population": 334,
"alphamissense_prediction": null,
"alphamissense_score": 0.081,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Chédiak-Higashi syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.016174763441085815,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3801,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13466,
"cdna_start": 304,
"cds_end": null,
"cds_length": 11406,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000081.4",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000389793.7",
"protein_coding": true,
"protein_id": "NP_000072.2",
"strand": false,
"transcript": "NM_000081.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3801,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13466,
"cdna_start": 304,
"cds_end": null,
"cds_length": 11406,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000389793.7",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000081.4",
"protein_coding": true,
"protein_id": "ENSP00000374443.2",
"strand": false,
"transcript": "ENST00000389793.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 77,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1140,
"cdna_start": 274,
"cds_end": null,
"cds_length": 234,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468626.2",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513173.1",
"strand": false,
"transcript": "ENST00000468626.2",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 73,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 951,
"cdna_start": 670,
"cds_end": null,
"cds_length": 222,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000468107.5",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513172.1",
"strand": false,
"transcript": "ENST00000468107.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000465349.5",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "n.694A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000465349.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 7069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000489585.5",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "n.143A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513166.1",
"strand": false,
"transcript": "ENST00000489585.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3801,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13934,
"cdna_start": 762,
"cds_end": null,
"cds_length": 11406,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001301365.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288294.1",
"strand": false,
"transcript": "NM_001301365.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 283,
"cds_end": null,
"cds_length": 3798,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697242.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513207.1",
"strand": false,
"transcript": "ENST00000697242.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 77,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4713,
"cdna_start": 778,
"cds_end": null,
"cds_length": 234,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697182.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513169.1",
"strand": false,
"transcript": "ENST00000697182.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 73,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3045,
"cdna_start": 323,
"cds_end": null,
"cds_length": 222,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697183.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513170.1",
"strand": false,
"transcript": "ENST00000697183.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 64,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3516,
"cdna_start": 767,
"cds_end": null,
"cds_length": 195,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697181.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513168.1",
"strand": false,
"transcript": "ENST00000697181.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 64,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2160,
"cdna_start": 307,
"cds_end": null,
"cds_length": 195,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000697184.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513171.1",
"strand": false,
"transcript": "ENST00000697184.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3855,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13638,
"cdna_start": 304,
"cds_end": null,
"cds_length": 11568,
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"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544031.2",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542333.1",
"strand": false,
"transcript": "XM_011544031.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3855,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14101,
"cdna_start": 767,
"cds_end": null,
"cds_length": 11568,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544032.2",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542334.1",
"strand": false,
"transcript": "XM_011544032.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3855,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 15425,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 11568,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544033.3",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542335.1",
"strand": false,
"transcript": "XM_011544033.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3855,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 20517,
"cdna_start": 7183,
"cds_end": null,
"cds_length": 11568,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 54,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047443026.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298982.1",
"strand": false,
"transcript": "XM_047443026.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 3318,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10323,
"cdna_start": 304,
"cds_end": null,
"cds_length": 9957,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 44,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544035.3",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542337.1",
"strand": false,
"transcript": "XM_011544035.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 3264,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10161,
"cdna_start": 304,
"cds_end": null,
"cds_length": 9795,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 43,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047443027.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298983.1",
"strand": false,
"transcript": "XM_047443027.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2876,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13948,
"cdna_start": 304,
"cds_end": null,
"cds_length": 8631,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011544037.3",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011542339.1",
"strand": false,
"transcript": "XM_011544037.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2842,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11881,
"cdna_start": 304,
"cds_end": null,
"cds_length": 8529,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047443038.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298994.1",
"strand": false,
"transcript": "XM_047443038.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2822,
"aa_ref": "H",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13786,
"cdna_start": 304,
"cds_end": null,
"cds_length": 8469,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047443040.1",
"gene_hgnc_id": 1968,
"gene_symbol": "LYST",
"hgvs_c": "c.143A>G",
"hgvs_p": "p.His48Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298996.1",
"strand": false,
"transcript": "XM_047443040.1",
"transcript_support_level": null
},
{
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}