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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: 20-36173856-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=36173856&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EPB41L1",
"hgnc_id": 3378,
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001433605.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.082,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08989754319190979,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6276,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2646,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_012156.2",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000338074.7",
"protein_coding": true,
"protein_id": "NP_036288.2",
"strand": true,
"transcript": "NM_012156.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6276,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2646,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000338074.7",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012156.2",
"protein_coding": true,
"protein_id": "ENSP00000337168.2",
"strand": true,
"transcript": "ENST00000338074.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373946.7",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363057.4",
"strand": true,
"transcript": "ENST00000373946.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 779,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3514,
"cdna_start": null,
"cds_end": null,
"cds_length": 2340,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000202028.9",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.-9-1695G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000202028.5",
"strand": true,
"transcript": "ENST00000202028.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1595,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8418,
"cdna_start": 250,
"cds_end": null,
"cds_length": 4788,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000636016.2",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489867.2",
"strand": true,
"transcript": "ENST00000636016.2",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1538,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8247,
"cdna_start": 250,
"cds_end": null,
"cds_length": 4617,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001433605.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001420534.1",
"strand": true,
"transcript": "NM_001433605.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 916,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 243,
"cds_end": null,
"cds_length": 2751,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887266.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557325.1",
"strand": true,
"transcript": "ENST00000887266.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": 456,
"cds_end": null,
"cds_length": 2748,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000887241.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557300.1",
"strand": true,
"transcript": "ENST00000887241.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 915,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3826,
"cdna_start": 329,
"cds_end": null,
"cds_length": 2748,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887256.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557315.1",
"strand": true,
"transcript": "ENST00000887256.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 887,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3570,
"cdna_start": 157,
"cds_end": null,
"cds_length": 2664,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887260.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557319.1",
"strand": true,
"transcript": "ENST00000887260.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258329.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001245258.1",
"strand": true,
"transcript": "NM_001258329.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6273,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001424402.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411331.1",
"strand": true,
"transcript": "NM_001424402.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2652,
"cdna_start": 88,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000373941.5",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363052.1",
"strand": true,
"transcript": "ENST00000373941.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3423,
"cdna_start": 285,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000887223.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557282.1",
"strand": true,
"transcript": "ENST00000887223.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 880,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3478,
"cdna_start": 230,
"cds_end": null,
"cds_length": 2643,
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"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887237.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557296.1",
"strand": true,
"transcript": "ENST00000887237.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6271,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887245.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557304.1",
"strand": true,
"transcript": "ENST00000887245.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 880,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3390,
"cdna_start": 252,
"cds_end": null,
"cds_length": 2643,
"cds_start": 79,
"consequences": [
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],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887263.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000557322.1",
"strand": true,
"transcript": "ENST00000887263.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3809,
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"cds_end": null,
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"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887255.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557314.1",
"strand": true,
"transcript": "ENST00000887255.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 358,
"cds_end": null,
"cds_length": 2640,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000887261.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557320.1",
"strand": true,
"transcript": "ENST00000887261.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6240,
"cdna_start": 250,
"cds_end": null,
"cds_length": 2610,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001424401.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411330.1",
"strand": true,
"transcript": "NM_001424401.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 869,
"aa_ref": "A",
"aa_start": 27,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3858,
"cdna_start": 310,
"cds_end": null,
"cds_length": 2610,
"cds_start": 79,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000887207.1",
"gene_hgnc_id": 3378,
"gene_symbol": "EPB41L1",
"hgvs_c": "c.79G>T",
"hgvs_p": "p.Ala27Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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