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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: 14-75047530-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=75047530&ref=A&alt=C&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": "MLH3",
"hgnc_id": 7128,
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001040108.2",
"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": 0.0818,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " hereditary nonpolyposis, type 7,Colorectal cancer",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08456721901893616,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7820,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001040108.2",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355774.7",
"protein_coding": true,
"protein_id": "NP_001035197.1",
"strand": false,
"transcript": "NM_001040108.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7820,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000355774.7",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001040108.2",
"protein_coding": true,
"protein_id": "ENSP00000348020.2",
"strand": false,
"transcript": "ENST00000355774.7",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7819,
"cdna_start": 2342,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000380968.6",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000370355.3",
"strand": false,
"transcript": "ENST00000380968.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5796,
"cdna_start": 2792,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930871.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600930.1",
"strand": false,
"transcript": "ENST00000930871.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6894,
"cdna_start": 3934,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000930872.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600931.1",
"strand": false,
"transcript": "ENST00000930872.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4768,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930876.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600935.1",
"strand": false,
"transcript": "ENST00000930876.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 4353,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930875.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600934.1",
"strand": false,
"transcript": "ENST00000930875.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7748,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014381.3",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055196.2",
"strand": false,
"transcript": "NM_014381.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5275,
"cdna_start": 2815,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000971038.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641097.1",
"strand": false,
"transcript": "ENST00000971038.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1418,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6577,
"cdna_start": 2284,
"cds_end": null,
"cds_length": 4257,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930870.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600929.1",
"strand": false,
"transcript": "ENST00000930870.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4658,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 4248,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930877.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600936.1",
"strand": false,
"transcript": "ENST00000930877.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1394,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4636,
"cdna_start": 2275,
"cds_end": null,
"cds_length": 4185,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930874.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600933.1",
"strand": false,
"transcript": "ENST00000930874.1",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 2290,
"cds_end": null,
"cds_length": 4182,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000930873.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600932.1",
"strand": false,
"transcript": "ENST00000930873.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1275,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4229,
"cdna_start": 2232,
"cds_end": null,
"cds_length": 3828,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000556257.5",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451540.1",
"strand": false,
"transcript": "ENST00000556257.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
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"aa_length": 1453,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7761,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 4362,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_006720116.5",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006720179.1",
"strand": false,
"transcript": "XM_006720116.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1429,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7689,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 4290,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_017021219.3",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016876708.1",
"strand": false,
"transcript": "XM_017021219.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1418,
"aa_ref": "I",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7715,
"cdna_start": 2277,
"cds_end": null,
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"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005267532.6",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267589.1",
"strand": false,
"transcript": "XM_005267532.6",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7656,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 4257,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_024449538.2",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024305306.1",
"strand": false,
"transcript": "XM_024449538.2",
"transcript_support_level": null
},
{
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"aa_ref": "I",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 7643,
"cdna_start": 2277,
"cds_end": null,
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"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_005267533.6",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267590.1",
"strand": false,
"transcript": "XM_005267533.6",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7584,
"cdna_start": 2218,
"cds_end": null,
"cds_length": 4185,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047431265.1",
"gene_hgnc_id": 7128,
"gene_symbol": "MLH3",
"hgvs_c": "c.2126T>G",
"hgvs_p": "p.Ile709Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287221.1",
"strand": false,
"transcript": "XM_047431265.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1297,
"aa_ref": "I",
"aa_start": 709,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4118,
"cdna_start": 2277,
"cds_end": null,
"cds_length": 3894,
"cds_start": 2126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
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