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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: 6-44230457-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=44230457&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC29A1",
"hgnc_id": 11003,
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Met",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001304462.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 106,
"alphamissense_prediction": null,
"alphamissense_score": 0.0876,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17958563566207886,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001372327.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371755.9",
"protein_coding": true,
"protein_id": "NP_001359256.1",
"strand": true,
"transcript": "NM_001372327.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2083,
"cdna_start": 663,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371755.9",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001372327.1",
"protein_coding": true,
"protein_id": "ENSP00000360820.3",
"strand": true,
"transcript": "ENST00000371755.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2159,
"cdna_start": 740,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000371708.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360773.1",
"strand": true,
"transcript": "ENST00000371708.1",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393844.7",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377427.1",
"strand": true,
"transcript": "ENST00000393844.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 228,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 928,
"cdna_start": 806,
"cds_end": null,
"cds_length": 687,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371740.10",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360805.6",
"strand": true,
"transcript": "ENST00000371740.10",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 535,
"aa_ref": "V",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2304,
"cdna_start": 884,
"cds_end": null,
"cds_length": 1608,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001304462.2",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.802G>A",
"hgvs_p": "p.Val268Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291391.1",
"strand": true,
"transcript": "NM_001304462.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 482,
"aa_ref": "V",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2207,
"cdna_start": 787,
"cds_end": null,
"cds_length": 1449,
"cds_start": 643,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001304465.2",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.643G>A",
"hgvs_p": "p.Val215Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291394.1",
"strand": true,
"transcript": "NM_001304465.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 481,
"aa_ref": "V",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1446,
"cds_start": 640,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001304466.2",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Val214Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291395.1",
"strand": true,
"transcript": "NM_001304466.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 471,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 708,
"cds_end": null,
"cds_length": 1416,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892054.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562113.1",
"strand": true,
"transcript": "ENST00000892054.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 471,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2260,
"cdna_start": 837,
"cds_end": null,
"cds_length": 1416,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967782.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637841.1",
"strand": true,
"transcript": "ENST00000967782.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 471,
"aa_ref": "V",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 820,
"cds_end": null,
"cds_length": 1416,
"cds_start": 610,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000967810.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.610G>A",
"hgvs_p": "p.Val204Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637869.1",
"strand": true,
"transcript": "ENST00000967810.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 464,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 832,
"cds_end": null,
"cds_length": 1395,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967781.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637840.1",
"strand": true,
"transcript": "ENST00000967781.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2098,
"cdna_start": 662,
"cds_end": null,
"cds_length": 1389,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000916887.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586946.1",
"strand": true,
"transcript": "ENST00000916887.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 768,
"cds_end": null,
"cds_length": 1389,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967783.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637842.1",
"strand": true,
"transcript": "ENST00000967783.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 462,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2204,
"cdna_start": 766,
"cds_end": null,
"cds_length": 1389,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000967787.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637846.1",
"strand": true,
"transcript": "ENST00000967787.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 461,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": 834,
"cds_end": null,
"cds_length": 1386,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000892024.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562083.1",
"strand": true,
"transcript": "ENST00000892024.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2190,
"cdna_start": 770,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001078175.3",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001071643.1",
"strand": true,
"transcript": "NM_001078175.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1087,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001078177.2",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001071645.1",
"strand": true,
"transcript": "NM_001078177.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 863,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371713.6",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360778.1",
"strand": true,
"transcript": "ENST00000371713.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 882,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000371724.6",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
"hgvs_p": "p.Val189Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360789.1",
"strand": true,
"transcript": "ENST00000371724.6",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 456,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2358,
"cdna_start": 956,
"cds_end": null,
"cds_length": 1371,
"cds_start": 565,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000651428.1",
"gene_hgnc_id": 11003,
"gene_symbol": "SLC29A1",
"hgvs_c": "c.565G>A",
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