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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: 12-120357820-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=120357820&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 120357820,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002442.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "NM_002442.4",
"protein_id": "NP_002433.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 362,
"cds_start": 530,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000257552.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002442.4"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000257552.7",
"protein_id": "ENSP00000257552.2",
"transcript_support_level": 1,
"aa_start": 177,
"aa_end": null,
"aa_length": 362,
"cds_start": 530,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002442.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257552.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000923996.1",
"protein_id": "ENSP00000594055.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 380,
"cds_start": 530,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923996.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000854931.1",
"protein_id": "ENSP00000524990.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 362,
"cds_start": 530,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854931.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000923992.1",
"protein_id": "ENSP00000594051.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 362,
"cds_start": 530,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923992.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000923995.1",
"protein_id": "ENSP00000594054.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 362,
"cds_start": 530,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923995.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.527A>C",
"hgvs_p": "p.Lys176Thr",
"transcript": "NM_001414485.1",
"protein_id": "NP_001401414.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 361,
"cds_start": 527,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414485.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.527A>C",
"hgvs_p": "p.Lys176Thr",
"transcript": "ENST00000923990.1",
"protein_id": "ENSP00000594049.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 361,
"cds_start": 527,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923990.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "NM_001414486.1",
"protein_id": "NP_001401415.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 351,
"cds_start": 530,
"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": "NM_001414486.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000854930.1",
"protein_id": "ENSP00000524989.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 351,
"cds_start": 530,
"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": "ENST00000854930.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000923994.1",
"protein_id": "ENSP00000594053.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 351,
"cds_start": 530,
"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": "ENST00000923994.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "NM_001414487.1",
"protein_id": "NP_001401416.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 343,
"cds_start": 530,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414487.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "NM_001414488.1",
"protein_id": "NP_001401417.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 332,
"cds_start": 530,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414488.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.530A>C",
"hgvs_p": "p.Lys177Thr",
"transcript": "ENST00000923991.1",
"protein_id": "ENSP00000594050.1",
"transcript_support_level": null,
"aa_start": 177,
"aa_end": null,
"aa_length": 332,
"cds_start": 530,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923991.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.527A>C",
"hgvs_p": "p.Lys176Thr",
"transcript": "ENST00000923993.1",
"protein_id": "ENSP00000594052.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 331,
"cds_start": 527,
"cds_end": null,
"cds_length": 996,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923993.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.377A>C",
"hgvs_p": "p.Lys126Thr",
"transcript": "NM_001414489.1",
"protein_id": "NP_001401418.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 311,
"cds_start": 377,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414489.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.326A>C",
"hgvs_p": "p.Lys109Thr",
"transcript": "NM_001414490.1",
"protein_id": "NP_001401419.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 294,
"cds_start": 326,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414490.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.326A>C",
"hgvs_p": "p.Lys109Thr",
"transcript": "NM_001414491.1",
"protein_id": "NP_001401420.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 283,
"cds_start": 326,
"cds_end": null,
"cds_length": 852,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414491.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.326A>C",
"hgvs_p": "p.Lys109Thr",
"transcript": "NM_001414492.1",
"protein_id": "NP_001401421.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 275,
"cds_start": 326,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414492.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Lys74Thr",
"transcript": "NM_001414493.1",
"protein_id": "NP_001401422.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 259,
"cds_start": 221,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414493.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Lys74Thr",
"transcript": "NM_001414494.1",
"protein_id": "NP_001401423.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 259,
"cds_start": 221,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414494.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSI1",
"gene_hgnc_id": 7330,
"hgvs_c": "c.221A>C",
"hgvs_p": "p.Lys74Thr",
"transcript": "NM_001414495.1",
"protein_id": "NP_001401424.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 259,
"cds_start": 221,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001414495.1"
},
{
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
"score": 4,
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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],
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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
}