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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: 12-109947294-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109947294&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GIT2",
"hgnc_id": 4273,
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_057169.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TCHP",
"hgnc_id": 28135,
"hgvs_c": "n.*276-5824C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000544838.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 32,
"alphamissense_prediction": null,
"alphamissense_score": 0.149,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5439482927322388,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 759,
"aa_ref": "E",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_057169.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355312.8",
"protein_coding": true,
"protein_id": "NP_476510.1",
"strand": false,
"transcript": "NM_057169.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 759,
"aa_ref": "E",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5598,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 2280,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000355312.8",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_057169.5",
"protein_coding": true,
"protein_id": "ENSP00000347464.3",
"strand": false,
"transcript": "ENST00000355312.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5291,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000457474.6",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1459G>A",
"hgvs_p": "p.Glu487Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391813.2",
"strand": false,
"transcript": "ENST00000457474.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 758,
"aa_ref": "E",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5618,
"cdna_start": 1755,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876497.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546556.1",
"strand": false,
"transcript": "ENST00000876497.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 758,
"aa_ref": "E",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2807,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 2277,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876510.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546569.1",
"strand": false,
"transcript": "ENST00000876510.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 744,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5566,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876499.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546558.1",
"strand": false,
"transcript": "ENST00000876499.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 743,
"aa_ref": "E",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5575,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876494.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Glu519Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546553.1",
"strand": false,
"transcript": "ENST00000876494.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5508,
"cdna_start": 1747,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001135214.3",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128686.1",
"strand": false,
"transcript": "NM_001135214.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 729,
"aa_ref": "E",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5444,
"cdna_start": 1683,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000361006.9",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Glu535Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354282.5",
"strand": false,
"transcript": "ENST00000361006.9",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 728,
"aa_ref": "E",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1600,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876504.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1600G>A",
"hgvs_p": "p.Glu534Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546563.1",
"strand": false,
"transcript": "ENST00000876504.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 714,
"aa_ref": "E",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5462,
"cdna_start": 1689,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1558,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000876503.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1558G>A",
"hgvs_p": "p.Glu520Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546562.1",
"strand": false,
"transcript": "ENST00000876503.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 713,
"aa_ref": "E",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2647,
"cdna_start": 1701,
"cds_end": null,
"cds_length": 2142,
"cds_start": 1555,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935696.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1555G>A",
"hgvs_p": "p.Glu519Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605755.1",
"strand": false,
"transcript": "ENST00000935696.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 709,
"aa_ref": "E",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5473,
"cdna_start": 1610,
"cds_end": null,
"cds_length": 2130,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000876495.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Glu485Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546554.1",
"strand": false,
"transcript": "ENST00000876495.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 708,
"aa_ref": "E",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5445,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001330153.2",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Glu484Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317082.1",
"strand": false,
"transcript": "NM_001330153.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 708,
"aa_ref": "E",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000551209.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Glu484Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448832.1",
"strand": false,
"transcript": "ENST00000551209.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 681,
"aa_ref": "E",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5364,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 2046,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001135213.3",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1459G>A",
"hgvs_p": "p.Glu487Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001128685.1",
"strand": false,
"transcript": "NM_001135213.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 679,
"aa_ref": "E",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5358,
"cdna_start": 1597,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_014776.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Glu485Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055591.2",
"strand": false,
"transcript": "NM_014776.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 679,
"aa_ref": "E",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5365,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000876500.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Glu485Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546559.1",
"strand": false,
"transcript": "ENST00000876500.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 678,
"aa_ref": "E",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2580,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 2037,
"cds_start": 1450,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000876509.1",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1450G>A",
"hgvs_p": "p.Glu484Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546568.1",
"strand": false,
"transcript": "ENST00000876509.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 640,
"aa_ref": "E",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1925,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000550186.5",
"gene_hgnc_id": 4273,
"gene_symbol": "GIT2",
"hgvs_c": "c.1417G>A",
"hgvs_p": "p.Glu473Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000473637.1",
"strand": false,
"transcript": "ENST00000550186.5",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 758,
"aa_ref": "E",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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