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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: 20-3227844-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3227844&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC4A11",
"hgnc_id": 16438,
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Leu900Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001174090.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "20",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "L",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2571,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001174089.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2571G>A",
"hgvs_p": "p.Leu857Leu",
"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": "L",
"aa_end": null,
"aa_length": 875,
"aa_ref": "L",
"aa_start": 857,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3046,
"cdna_start": 2624,
"cds_end": null,
"cds_length": 2628,
"cds_start": 2571,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000642402.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2571G>A",
"hgvs_p": "p.Leu857Leu",
"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": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "L",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 2667,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2619,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000380056.7",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2619G>A",
"hgvs_p": "p.Leu873Leu",
"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": "L",
"aa_end": null,
"aa_length": 918,
"aa_ref": "L",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3245,
"cdna_start": 2823,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2700,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001174090.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Leu900Leu",
"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": "L",
"aa_end": null,
"aa_length": 918,
"aa_ref": "L",
"aa_start": 900,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2802,
"cds_end": null,
"cds_length": 2757,
"cds_start": 2700,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000380059.7",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2700G>A",
"hgvs_p": "p.Leu900Leu",
"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": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "L",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
"cdna_start": 2667,
"cds_end": null,
"cds_length": 2676,
"cds_start": 2619,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_032034.4",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2619G>A",
"hgvs_p": "p.Leu873Leu",
"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": "L",
"aa_end": null,
"aa_length": 880,
"aa_ref": "L",
"aa_start": 862,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3133,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 2643,
"cds_start": 2586,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001400280.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2586G>A",
"hgvs_p": "p.Leu862Leu",
"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": "L",
"aa_end": null,
"aa_length": 873,
"aa_ref": "L",
"aa_start": 855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3039,
"cdna_start": 2616,
"cds_end": null,
"cds_length": 2622,
"cds_start": 2565,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000925552.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2565G>A",
"hgvs_p": "p.Leu855Leu",
"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": "L",
"aa_end": null,
"aa_length": 856,
"aa_ref": "L",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3162,
"cdna_start": 2740,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2514,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001400277.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2514G>A",
"hgvs_p": "p.Leu838Leu",
"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": "L",
"aa_end": null,
"aa_length": 856,
"aa_ref": "L",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3161,
"cdna_start": 2739,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2514,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001400278.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2514G>A",
"hgvs_p": "p.Leu838Leu",
"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": "L",
"aa_end": null,
"aa_length": 856,
"aa_ref": "L",
"aa_start": 838,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": 2730,
"cds_end": null,
"cds_length": 2571,
"cds_start": 2514,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001400279.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2514G>A",
"hgvs_p": "p.Leu838Leu",
"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": "L",
"aa_end": null,
"aa_length": 852,
"aa_ref": "L",
"aa_start": 834,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 2555,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2502,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000644011.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2502G>A",
"hgvs_p": "p.Leu834Leu",
"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": "L",
"aa_end": null,
"aa_length": 851,
"aa_ref": "L",
"aa_start": 833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 2585,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2499,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000876657.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2499G>A",
"hgvs_p": "p.Leu833Leu",
"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": "L",
"aa_end": null,
"aa_length": 851,
"aa_ref": "L",
"aa_start": 833,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2572,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2499,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000925551.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2499G>A",
"hgvs_p": "p.Leu833Leu",
"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": "L",
"aa_end": null,
"aa_length": 850,
"aa_ref": "L",
"aa_start": 832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2496,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000876658.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2496G>A",
"hgvs_p": "p.Leu832Leu",
"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": "L",
"aa_end": null,
"aa_length": 837,
"aa_ref": "L",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2457,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001363745.2",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2457G>A",
"hgvs_p": "p.Leu819Leu",
"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": "L",
"aa_end": null,
"aa_length": 837,
"aa_ref": "L",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 2510,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2457,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000647296.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2457G>A",
"hgvs_p": "p.Leu819Leu",
"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": "L",
"aa_end": null,
"aa_length": 835,
"aa_ref": "L",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2881,
"cdna_start": 2537,
"cds_end": null,
"cds_length": 2508,
"cds_start": 2451,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000876659.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2451G>A",
"hgvs_p": "p.Leu817Leu",
"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": "L",
"aa_end": null,
"aa_length": 827,
"aa_ref": "L",
"aa_start": 809,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3225,
"cdna_start": 2870,
"cds_end": null,
"cds_length": 2484,
"cds_start": 2427,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000925550.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2427G>A",
"hgvs_p": "p.Leu809Leu",
"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": "L",
"aa_end": null,
"aa_length": 808,
"aa_ref": "L",
"aa_start": 790,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 2427,
"cds_start": 2370,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000644692.1",
"gene_hgnc_id": 16438,
"gene_symbol": "SLC4A11",
"hgvs_c": "c.2370G>A",
"hgvs_p": "p.Leu790Leu",
"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": "L",
"aa_end": null,
"aa_length": 891,
"aa_ref": "L",
"aa_start": 873,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": 3079,
"cds_end": null,
"cds_length": 2676,
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