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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: 1-153534817-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=153534817&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "S100A6",
"hgnc_id": 10496,
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_014624.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000238279",
"hgnc_id": null,
"hgvs_c": "n.603-87G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000420695.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC124904423",
"hgnc_id": null,
"hgvs_c": "n.481-87G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_007066630.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.1062,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.061066120862960815,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 434,
"cdna_start": 216,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014624.4",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368719.9",
"protein_coding": true,
"protein_id": "NP_055439.1",
"strand": false,
"transcript": "NM_014624.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 434,
"cdna_start": 216,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000368719.9",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014624.4",
"protein_coding": true,
"protein_id": "ENSP00000357708.3",
"strand": false,
"transcript": "ENST00000368719.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 673,
"cdna_start": 455,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000368720.6",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000357709.1",
"strand": false,
"transcript": "ENST00000368720.6",
"transcript_support_level": 3
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 673,
"cdna_start": 455,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000496817.5",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473589.1",
"strand": false,
"transcript": "ENST00000496817.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1580,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000896466.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566525.1",
"strand": false,
"transcript": "ENST00000896466.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 672,
"cdna_start": 454,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896467.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566526.1",
"strand": false,
"transcript": "ENST00000896467.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 682,
"cdna_start": 459,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896468.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566527.1",
"strand": false,
"transcript": "ENST00000896468.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": 604,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896469.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566528.1",
"strand": false,
"transcript": "ENST00000896469.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 741,
"cdna_start": 523,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896470.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566529.1",
"strand": false,
"transcript": "ENST00000896470.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 90,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 565,
"cdna_start": 348,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896471.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566530.1",
"strand": false,
"transcript": "ENST00000896471.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 665,
"cdna_start": 449,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000896472.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566531.1",
"strand": false,
"transcript": "ENST00000896472.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000896473.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566532.1",
"strand": false,
"transcript": "ENST00000896473.1",
"transcript_support_level": null
},
{
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"aa_length": 90,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 869,
"cdna_start": 651,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
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],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925440.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595499.1",
"strand": false,
"transcript": "ENST00000925440.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 465,
"cds_end": null,
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"consequences": [
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],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000925441.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595500.1",
"strand": false,
"transcript": "ENST00000925441.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 90,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": 467,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925442.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595501.1",
"strand": false,
"transcript": "ENST00000925442.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 90,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 513,
"cdna_start": 296,
"cds_end": null,
"cds_length": 273,
"cds_start": 152,
"consequences": [
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],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000925443.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595502.1",
"strand": false,
"transcript": "ENST00000925443.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 89,
"aa_ref": "A",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 452,
"cdna_start": 234,
"cds_end": null,
"cds_length": 270,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896474.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ala50Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566533.1",
"strand": false,
"transcript": "ENST00000896474.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 89,
"aa_ref": "A",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 500,
"cdna_start": 285,
"cds_end": null,
"cds_length": 270,
"cds_start": 149,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954696.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.149C>T",
"hgvs_p": "p.Ala50Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624755.1",
"strand": false,
"transcript": "ENST00000954696.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 87,
"aa_ref": "A",
"aa_start": 48,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 421,
"cdna_start": 207,
"cds_end": null,
"cds_length": 264,
"cds_start": 143,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000896475.1",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.143C>T",
"hgvs_p": "p.Ala48Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566534.1",
"strand": false,
"transcript": "ENST00000896475.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 84,
"aa_ref": "A",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 479,
"cdna_start": 376,
"cds_end": null,
"cds_length": 255,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000462776.2",
"gene_hgnc_id": 10496,
"gene_symbol": "S100A6",
"hgvs_c": "c.152C>T",
"hgvs_p": "p.Ala51Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473547.1",
"strand": false,
"transcript": "ENST00000462776.2",
"transcript_support_level": 2
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