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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: 9-132197994-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=132197994&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NTNG2",
"hgnc_id": 14288,
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"inheritance_mode": "AR,AD",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_032536.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9994,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "9",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": " absent speech, and hypotonia,Neurodevelopmental disorder,Neurodevelopmental disorder with behavioral abnormalities",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9779086112976074,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_032536.4",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393229.4",
"protein_coding": true,
"protein_id": "NP_115925.2",
"strand": true,
"transcript": "NM_032536.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 907,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000393229.4",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_032536.4",
"protein_coding": true,
"protein_id": "ENSP00000376921.3",
"strand": true,
"transcript": "ENST00000393229.4",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 636,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1911,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946492.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616551.1",
"strand": true,
"transcript": "ENST00000946492.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5170,
"cdna_start": 1404,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922385.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592444.1",
"strand": true,
"transcript": "ENST00000922385.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922386.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592445.1",
"strand": true,
"transcript": "ENST00000922386.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 785,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922387.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592446.1",
"strand": true,
"transcript": "ENST00000922387.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4247,
"cdna_start": 2170,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946488.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616547.1",
"strand": true,
"transcript": "ENST00000946488.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3961,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946489.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616548.1",
"strand": true,
"transcript": "ENST00000946489.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2954,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946490.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616549.1",
"strand": true,
"transcript": "ENST00000946490.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 932,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946491.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616550.1",
"strand": true,
"transcript": "ENST00000946491.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3519,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946495.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616554.1",
"strand": true,
"transcript": "ENST00000946495.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
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],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946496.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616555.1",
"strand": true,
"transcript": "ENST00000946496.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 1387,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000946497.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616556.1",
"strand": true,
"transcript": "ENST00000946497.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 530,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3114,
"cdna_start": 1041,
"cds_end": null,
"cds_length": 1593,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000946498.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616557.1",
"strand": true,
"transcript": "ENST00000946498.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 522,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 1569,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946494.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616553.1",
"strand": true,
"transcript": "ENST00000946494.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 485,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1458,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946493.1",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616552.1",
"strand": true,
"transcript": "ENST00000946493.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 636,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1132,
"cds_end": null,
"cds_length": 1911,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011519094.3",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517396.1",
"strand": true,
"transcript": "XM_011519094.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "C",
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"biotype": "protein_coding",
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"cdna_start": 981,
"cds_end": null,
"cds_length": 1911,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011519096.3",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517398.1",
"strand": true,
"transcript": "XM_011519096.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_ref": "C",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1042,
"cds_end": null,
"cds_length": 1911,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011519097.4",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517399.1",
"strand": true,
"transcript": "XM_011519097.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 636,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5166,
"cdna_start": 1082,
"cds_end": null,
"cds_length": 1911,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011519098.3",
"gene_hgnc_id": 14288,
"gene_symbol": "NTNG2",
"hgvs_c": "c.242G>A",
"hgvs_p": "p.Cys81Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517400.1",
"strand": true,
"transcript": "XM_011519098.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 636,
"aa_ref": "C",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5076,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1911,
"cds_start": 242,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011519099.3",
"gene_hgnc_id": 14288,
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