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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: 14-56804267-AAC-ACC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=56804267&ref=AAC&alt=ACC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OTX2",
"hgnc_id": 8522,
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"inheritance_mode": "AD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_021728.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9999,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.59,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9516128301620483,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 480,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_021728.4",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000672264.2",
"protein_coding": true,
"protein_id": "NP_068374.1",
"strand": false,
"transcript": "NM_021728.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3011,
"cdna_start": 480,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000672264.2",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021728.4",
"protein_coding": true,
"protein_id": "ENSP00000500115.1",
"strand": false,
"transcript": "ENST00000672264.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1086,
"cdna_start": 385,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000554845.2",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451357.2",
"strand": false,
"transcript": "ENST00000554845.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2956,
"cdna_start": 425,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000339475.10",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343819.5",
"strand": false,
"transcript": "ENST00000339475.10",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 380,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000408990.8",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386185.3",
"strand": false,
"transcript": "ENST00000408990.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1279,
"cdna_start": 578,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000555006.5",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000452336.1",
"strand": false,
"transcript": "ENST00000555006.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 35,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": null,
"cds_end": null,
"cds_length": 108,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000554788.5",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.97+1092T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000474486.1",
"strand": false,
"transcript": "ENST00000554788.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2935,
"cdna_start": 404,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001270525.2",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257454.1",
"strand": false,
"transcript": "NM_001270525.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 543,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000673481.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500595.1",
"strand": false,
"transcript": "ENST00000673481.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 297,
"aa_ref": "F",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3369,
"cdna_start": 1640,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939199.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609258.1",
"strand": false,
"transcript": "ENST00000939199.1",
"transcript_support_level": null
},
{
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"aa_length": 297,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 695,
"cds_end": null,
"cds_length": 894,
"cds_start": 193,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939200.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.193T>G",
"hgvs_p": "p.Phe65Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609259.1",
"strand": false,
"transcript": "ENST00000939200.1",
"transcript_support_level": null
},
{
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"aa_length": 289,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": 456,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001270523.2",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257452.1",
"strand": false,
"transcript": "NM_001270523.2",
"transcript_support_level": null
},
{
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"aa_length": 289,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 609,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
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"exon_rank_end": null,
"feature": "NM_001270524.2",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257453.1",
"strand": false,
"transcript": "NM_001270524.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2911,
"cdna_start": 380,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_172337.3",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_758840.1",
"strand": false,
"transcript": "NM_172337.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 289,
"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1177,
"cdna_start": 476,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
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],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000555804.2",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451272.2",
"strand": false,
"transcript": "ENST00000555804.2",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 459,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000673035.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500061.1",
"strand": false,
"transcript": "ENST00000673035.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 387,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000685244.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508798.1",
"strand": false,
"transcript": "ENST00000685244.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 289,
"aa_ref": "F",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 481,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000903453.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573512.1",
"strand": false,
"transcript": "ENST00000903453.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": 708,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939197.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609256.1",
"strand": false,
"transcript": "ENST00000939197.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2545,
"cdna_start": 816,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939198.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609257.1",
"strand": false,
"transcript": "ENST00000939198.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 289,
"aa_ref": "F",
"aa_start": 57,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 447,
"cds_end": null,
"cds_length": 870,
"cds_start": 169,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000939201.1",
"gene_hgnc_id": 8522,
"gene_symbol": "OTX2",
"hgvs_c": "c.169T>G",
"hgvs_p": "p.Phe57Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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