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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: 5-153646962-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=153646962&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "GRIA1",
"hgnc_id": 4571,
"hgvs_c": "c.-31C>G",
"hgvs_p": null,
"inheritance_mode": "AR,AD,Unknown",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001258020.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7162,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.17,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "GRIA1-related disorder",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9246025085449219,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 906,
"aa_ref": "I",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2721,
"cds_start": 255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_000827.4",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Ile85Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000285900.10",
"protein_coding": true,
"protein_id": "NP_000818.2",
"strand": true,
"transcript": "NM_000827.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 906,
"aa_ref": "I",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2721,
"cds_start": 255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000285900.10",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Ile85Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000827.4",
"protein_coding": true,
"protein_id": "ENSP00000285900.4",
"strand": true,
"transcript": "ENST00000285900.10",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 906,
"aa_ref": "I",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2721,
"cds_start": 255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000340592.10",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Ile85Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339343.5",
"strand": true,
"transcript": "ENST00000340592.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2069,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000481559.6",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "n.396C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000481559.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 811,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": null,
"cds_end": null,
"cds_length": 2436,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001258020.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.-31C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244949.1",
"strand": true,
"transcript": "NM_001258020.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 947,
"aa_ref": "I",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5736,
"cdna_start": 517,
"cds_end": null,
"cds_length": 2844,
"cds_start": 255,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000706733.1",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Ile85Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516520.1",
"strand": true,
"transcript": "ENST00000706733.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5422,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2751,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258021.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.285C>G",
"hgvs_p": "p.Ile95Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244950.1",
"strand": true,
"transcript": "NM_001258021.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5422,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2751,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258022.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.285C>G",
"hgvs_p": "p.Ile95Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244951.1",
"strand": true,
"transcript": "NM_001258022.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2751,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000448073.8",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.285C>G",
"hgvs_p": "p.Ile95Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415569.2",
"strand": true,
"transcript": "ENST00000448073.8",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 916,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5233,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2751,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000518783.1",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.285C>G",
"hgvs_p": "p.Ile95Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428994.1",
"strand": true,
"transcript": "ENST00000518783.1",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 915,
"aa_ref": "I",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6031,
"cdna_start": 921,
"cds_end": null,
"cds_length": 2748,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001364166.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.282C>G",
"hgvs_p": "p.Ile94Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351095.1",
"strand": true,
"transcript": "NM_001364166.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 915,
"aa_ref": "I",
"aa_start": 94,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3437,
"cdna_start": 626,
"cds_end": null,
"cds_length": 2748,
"cds_start": 282,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000706734.1",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.282C>G",
"hgvs_p": "p.Ile94Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516521.1",
"strand": true,
"transcript": "ENST00000706734.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 906,
"aa_ref": "I",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5584,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2721,
"cds_start": 255,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001114183.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Ile85Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001107655.1",
"strand": true,
"transcript": "NM_001114183.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 850,
"aa_ref": "I",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": 474,
"cds_end": null,
"cds_length": 2553,
"cds_start": 255,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001364165.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.255C>G",
"hgvs_p": "p.Ile85Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351094.1",
"strand": true,
"transcript": "NM_001364165.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 837,
"aa_ref": "I",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5319,
"cdna_start": 209,
"cds_end": null,
"cds_length": 2514,
"cds_start": 48,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001258023.1",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Ile16Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244952.1",
"strand": true,
"transcript": "NM_001258023.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 837,
"aa_ref": "I",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 836,
"cds_end": null,
"cds_length": 2514,
"cds_start": 48,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001364167.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Ile16Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351096.1",
"strand": true,
"transcript": "NM_001364167.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 837,
"aa_ref": "I",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3069,
"cdna_start": 209,
"cds_end": null,
"cds_length": 2514,
"cds_start": 48,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000521843.6",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Ile16Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427864.2",
"strand": true,
"transcript": "ENST00000521843.6",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 108,
"aa_ref": "I",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 548,
"cdna_start": 336,
"cds_end": null,
"cds_length": 329,
"cds_start": 117,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000706767.1",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.117C>G",
"hgvs_p": "p.Ile39Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516540.1",
"strand": true,
"transcript": "ENST00000706767.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 62,
"aa_ref": "I",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": 397,
"cds_end": null,
"cds_length": 190,
"cds_start": 48,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000520353.6",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Ile16Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516539.1",
"strand": true,
"transcript": "ENST00000520353.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 886,
"aa_ref": "I",
"aa_start": 65,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5506,
"cdna_start": 396,
"cds_end": null,
"cds_length": 2661,
"cds_start": 195,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047417128.1",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.195C>G",
"hgvs_p": "p.Ile65Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273084.1",
"strand": true,
"transcript": "XM_047417128.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 846,
"aa_ref": "I",
"aa_start": 95,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 312,
"cds_end": null,
"cds_length": 2541,
"cds_start": 285,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_017009392.2",
"gene_hgnc_id": 4571,
"gene_symbol": "GRIA1",
"hgvs_c": "c.285C>G",
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