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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: 20-3230587-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3230587&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Asp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001174090.2",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_score": 8,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9845,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"chr": "20",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Congenital hereditary endothelial dystrophy of cornea",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9822638034820557,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 875,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001174089.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642402.1",
"protein_coding": true,
"protein_id": "NP_001167560.1",
"strand": false,
"transcript": "NM_001174089.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 875,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 1396,
"cds_end": null,
"cds_length": 2628,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000642402.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001174089.2",
"protein_coding": true,
"protein_id": "ENSP00000493503.1",
"strand": false,
"transcript": "ENST00000642402.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 891,
"aa_ref": "G",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000380056.7",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1391G>A",
"hgvs_p": "p.Gly464Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369396.3",
"strand": false,
"transcript": "ENST00000380056.7",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 918,
"aa_ref": "G",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 1595,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001174090.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167561.1",
"strand": false,
"transcript": "NM_001174090.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 918,
"aa_ref": "G",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1472,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000380059.7",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1472G>A",
"hgvs_p": "p.Gly491Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369399.3",
"strand": false,
"transcript": "ENST00000380059.7",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 891,
"aa_ref": "G",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_032034.4",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1391G>A",
"hgvs_p": "p.Gly464Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_114423.1",
"strand": false,
"transcript": "NM_032034.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 880,
"aa_ref": "G",
"aa_start": 453,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 1483,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1358,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001400280.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1358G>A",
"hgvs_p": "p.Gly453Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387209.1",
"strand": false,
"transcript": "NM_001400280.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 873,
"aa_ref": "G",
"aa_start": 446,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 1388,
"cds_end": null,
"cds_length": 2622,
"cds_start": 1337,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925552.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1337G>A",
"hgvs_p": "p.Gly446Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595611.1",
"strand": false,
"transcript": "ENST00000925552.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 856,
"aa_ref": "G",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 1512,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001400277.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Gly429Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387206.1",
"strand": false,
"transcript": "NM_001400277.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 856,
"aa_ref": "G",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001400278.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Gly429Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387207.1",
"strand": false,
"transcript": "NM_001400278.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 856,
"aa_ref": "G",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1286,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001400279.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1286G>A",
"hgvs_p": "p.Gly429Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001387208.1",
"strand": false,
"transcript": "NM_001400279.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 852,
"aa_ref": "G",
"aa_start": 425,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 2559,
"cds_start": 1274,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644011.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1274G>A",
"hgvs_p": "p.Gly425Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496214.1",
"strand": false,
"transcript": "ENST00000644011.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 851,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000876657.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546716.1",
"strand": false,
"transcript": "ENST00000876657.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 851,
"aa_ref": "G",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 2556,
"cds_start": 1271,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925551.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1271G>A",
"hgvs_p": "p.Gly424Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595610.1",
"strand": false,
"transcript": "ENST00000925551.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 850,
"aa_ref": "G",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 1341,
"cds_end": null,
"cds_length": 2553,
"cds_start": 1268,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000876658.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1268G>A",
"hgvs_p": "p.Gly423Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546717.1",
"strand": false,
"transcript": "ENST00000876658.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 837,
"aa_ref": "G",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001363745.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Gly410Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350674.1",
"strand": false,
"transcript": "NM_001363745.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 837,
"aa_ref": "G",
"aa_start": 410,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1229,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000647296.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1229G>A",
"hgvs_p": "p.Gly410Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495050.1",
"strand": false,
"transcript": "ENST00000647296.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 835,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 2508,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000876659.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546718.1",
"strand": false,
"transcript": "ENST00000876659.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 827,
"aa_ref": "G",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 2484,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000925550.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Gly448Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595609.1",
"strand": false,
"transcript": "ENST00000925550.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 808,
"aa_ref": "G",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 1430,
"cds_end": null,
"cds_length": 2427,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000644692.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.1214G>A",
"hgvs_p": "p.Gly405Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493824.1",
"strand": false,
"transcript": "ENST00000644692.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 891,
"aa_ref": "G",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 1851,
"cds_end": null,
"cds_length": 2676,
"cds_start": 1391,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 12,
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