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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: 17-15999349-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=15999349&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZSWIM7",
"hgnc_id": 26993,
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001042697.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.78,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7799999713897705,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042697.2",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399277.6",
"protein_coding": true,
"protein_id": "NP_001036162.1",
"strand": false,
"transcript": "NM_001042697.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399277.6",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042697.2",
"protein_coding": true,
"protein_id": "ENSP00000382218.1",
"strand": false,
"transcript": "ENST00000399277.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 703,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000472495.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419138.1",
"strand": false,
"transcript": "ENST00000472495.5",
"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": 918,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000486706.6",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463327.1",
"strand": false,
"transcript": "ENST00000486706.6",
"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": 1264,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490395.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464605.1",
"strand": false,
"transcript": "ENST00000490395.5",
"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": 987,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585208.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464227.1",
"strand": false,
"transcript": "ENST00000585208.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 254,
"aa_ref": "K",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 332,
"cds_end": null,
"cds_length": 765,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000888430.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Lys82Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558489.1",
"strand": false,
"transcript": "ENST00000888430.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 225,
"aa_ref": "K",
"aa_start": 82,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1118,
"cdna_start": 366,
"cds_end": null,
"cds_length": 678,
"cds_start": 246,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000946548.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.246A>G",
"hgvs_p": "p.Lys82Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616607.1",
"strand": false,
"transcript": "ENST00000946548.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 140,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": null,
"cds_end": null,
"cds_length": 423,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042698.2",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036163.1",
"strand": false,
"transcript": "NM_001042698.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 138,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": null,
"cds_end": null,
"cds_length": 417,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946547.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.92+154A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616606.1",
"strand": false,
"transcript": "ENST00000946547.1",
"transcript_support_level": null
},
{
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"aa_length": 137,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": null,
"cds_end": null,
"cds_length": 414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888429.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558488.1",
"strand": false,
"transcript": "ENST00000888429.1",
"transcript_support_level": null
},
{
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"aa_length": 105,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1900,
"cdna_start": null,
"cds_end": null,
"cds_length": 318,
"cds_start": null,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000888428.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000558487.1",
"strand": false,
"transcript": "ENST00000888428.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
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"feature": "ENST00000922667.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.89+157A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000592726.1",
"strand": false,
"transcript": "ENST00000922667.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 726,
"cdna_start": null,
"cds_end": null,
"cds_length": 201,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000486655.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.31+170A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464371.1",
"strand": false,
"transcript": "ENST00000486655.5",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
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"feature": "XM_047435364.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.76+170A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047291320.1",
"strand": false,
"transcript": "XM_047435364.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_length": 414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435365.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047291321.1",
"strand": false,
"transcript": "XM_047435365.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 862,
"cdna_start": null,
"cds_end": null,
"cds_length": 414,
"cds_start": null,
"consequences": [
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],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435366.1",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "c.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047291322.1",
"strand": false,
"transcript": "XM_047435366.1",
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},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000399280.6",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.35+311A>G",
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"mane_plus": null,
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"protein_coding": false,
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"strand": false,
"transcript": "ENST00000399280.6",
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},
{
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"cdna_start": null,
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"cds_length": null,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000460252.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.92+154A>G",
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"mane_plus": null,
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"protein_coding": false,
"protein_id": "ENSP00000464463.1",
"strand": false,
"transcript": "ENST00000460252.5",
"transcript_support_level": 2
},
{
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"biotype": "nonsense_mediated_decay",
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"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000460315.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.92+154A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462590.1",
"strand": false,
"transcript": "ENST00000460315.5",
"transcript_support_level": 3
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 671,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474716.5",
"gene_hgnc_id": 26993,
"gene_symbol": "ZSWIM7",
"hgvs_c": "n.89+157A>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464500.1",
"strand": false,
"transcript": "ENST00000474716.5",
"transcript_support_level": 3
},
{
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"biotype": "nonsense_mediated_decay",
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