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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: 5-141656261-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=141656261&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ARAP3",
"hgnc_id": 24097,
"hgvs_c": "c.3805C>T",
"hgvs_p": "p.Arg1269Trp",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_022481.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": 0.6155,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.29,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.44603028893470764,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "R",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 3880,
"cds_end": null,
"cds_length": 4635,
"cds_start": 3805,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_022481.6",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3805C>T",
"hgvs_p": "p.Arg1269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000239440.9",
"protein_coding": true,
"protein_id": "NP_071926.4",
"strand": false,
"transcript": "NM_022481.6",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "R",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5258,
"cdna_start": 3880,
"cds_end": null,
"cds_length": 4635,
"cds_start": 3805,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000239440.9",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3805C>T",
"hgvs_p": "p.Arg1269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022481.6",
"protein_coding": true,
"protein_id": "ENSP00000239440.4",
"strand": false,
"transcript": "ENST00000239440.9",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1563,
"aa_ref": "R",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5333,
"cdna_start": 3897,
"cds_end": null,
"cds_length": 4692,
"cds_start": 3805,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000955414.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3805C>T",
"hgvs_p": "p.Arg1269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625473.1",
"strand": false,
"transcript": "ENST00000955414.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1543,
"aa_ref": "R",
"aa_start": 1249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5398,
"cdna_start": 3807,
"cds_end": null,
"cds_length": 4632,
"cds_start": 3745,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000925545.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3745C>T",
"hgvs_p": "p.Arg1249Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595604.1",
"strand": false,
"transcript": "ENST00000925545.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "R",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5210,
"cdna_start": 3834,
"cds_end": null,
"cds_length": 4596,
"cds_start": 3766,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000890876.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3766C>T",
"hgvs_p": "p.Arg1256Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560935.1",
"strand": false,
"transcript": "ENST00000890876.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1530,
"aa_ref": "R",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5219,
"cdna_start": 3841,
"cds_end": null,
"cds_length": 4593,
"cds_start": 3763,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000925546.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3763C>T",
"hgvs_p": "p.Arg1255Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000595605.1",
"strand": false,
"transcript": "ENST00000925546.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1524,
"aa_ref": "R",
"aa_start": 1249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5332,
"cdna_start": 3797,
"cds_end": null,
"cds_length": 4575,
"cds_start": 3745,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000890874.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3745C>T",
"hgvs_p": "p.Arg1249Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560933.1",
"strand": false,
"transcript": "ENST00000890874.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1515,
"aa_ref": "R",
"aa_start": 1253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5358,
"cdna_start": 3857,
"cds_end": null,
"cds_length": 4548,
"cds_start": 3757,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000890873.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3757C>T",
"hgvs_p": "p.Arg1253Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560932.1",
"strand": false,
"transcript": "ENST00000890873.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "R",
"aa_start": 1249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5146,
"cdna_start": 3807,
"cds_end": null,
"cds_length": 4536,
"cds_start": 3745,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000955415.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3745C>T",
"hgvs_p": "p.Arg1249Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625474.1",
"strand": false,
"transcript": "ENST00000955415.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1473,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5048,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 4422,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000890875.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3592C>T",
"hgvs_p": "p.Arg1198Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560934.1",
"strand": false,
"transcript": "ENST00000890875.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "R",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4927,
"cdna_start": 3548,
"cds_end": null,
"cds_length": 4128,
"cds_start": 3298,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000508305.5",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3298C>T",
"hgvs_p": "p.Arg1100Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421826.1",
"strand": false,
"transcript": "ENST00000508305.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1375,
"aa_ref": "R",
"aa_start": 1100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4928,
"cdna_start": 3551,
"cds_end": null,
"cds_length": 4128,
"cds_start": 3298,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000626478.2",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3298C>T",
"hgvs_p": "p.Arg1100Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486980.1",
"strand": false,
"transcript": "ENST00000626478.2",
"transcript_support_level": 5
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1193,
"aa_ref": "R",
"aa_start": 931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3810,
"cdna_start": 2860,
"cds_end": null,
"cds_length": 3582,
"cds_start": 2791,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000513878.5",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.2791C>T",
"hgvs_p": "p.Arg931Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421468.1",
"strand": false,
"transcript": "ENST00000513878.5",
"transcript_support_level": 2
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1544,
"aa_ref": "R",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5556,
"cdna_start": 4178,
"cds_end": null,
"cds_length": 4635,
"cds_start": 3805,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047417505.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3805C>T",
"hgvs_p": "p.Arg1269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273461.1",
"strand": false,
"transcript": "XM_047417505.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "R",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5517,
"cdna_start": 4178,
"cds_end": null,
"cds_length": 4596,
"cds_start": 3805,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047417506.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3805C>T",
"hgvs_p": "p.Arg1269Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273462.1",
"strand": false,
"transcript": "XM_047417506.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1524,
"aa_ref": "R",
"aa_start": 1249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5496,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 4575,
"cds_start": 3745,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_005268498.3",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3745C>T",
"hgvs_p": "p.Arg1249Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268555.1",
"strand": false,
"transcript": "XM_005268498.3",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1511,
"aa_ref": "R",
"aa_start": 1249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5457,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 4536,
"cds_start": 3745,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047417507.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3745C>T",
"hgvs_p": "p.Arg1249Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273463.1",
"strand": false,
"transcript": "XM_047417507.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1473,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5343,
"cdna_start": 3965,
"cds_end": null,
"cds_length": 4422,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047417508.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3592C>T",
"hgvs_p": "p.Arg1198Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273464.1",
"strand": false,
"transcript": "XM_047417508.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "R",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5226,
"cdna_start": 3848,
"cds_end": null,
"cds_length": 4401,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_005268499.2",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3571C>T",
"hgvs_p": "p.Arg1191Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005268556.1",
"strand": false,
"transcript": "XM_005268499.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "R",
"aa_start": 1198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 3965,
"cds_end": null,
"cds_length": 4383,
"cds_start": 3592,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_047417509.1",
"gene_hgnc_id": 24097,
"gene_symbol": "ARAP3",
"hgvs_c": "c.3592C>T",
"hgvs_p": "p.Arg1198Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273465.1",
"strand": false,
"transcript": "XM_047417509.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1453,
"aa_ref": "R",
"aa_start": 1191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5187,
"cdna_start": 3848,
"cds_end": null,
"cds_length": 4362,
"cds_start": 3571,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 28,
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