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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: 2-113640930-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=113640930&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RABL2A",
"hgnc_id": 9799,
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001354405.2",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "RPL23AP7",
"hgnc_id": null,
"hgvs_c": "n.162-15201G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000802718.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BS2",
"acmg_score": -2,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.5148,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6238200664520264,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 229,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 522,
"cds_end": null,
"cds_length": 690,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001306158.2",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683472.1",
"protein_coding": true,
"protein_id": "NP_001293087.1",
"strand": true,
"transcript": "NM_001306158.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 229,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 522,
"cds_end": null,
"cds_length": 690,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000683472.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001306158.2",
"protein_coding": true,
"protein_id": "ENSP00000507832.1",
"strand": true,
"transcript": "ENST00000683472.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 238,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 636,
"cds_end": null,
"cds_length": 717,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000409875.5",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387229.1",
"strand": true,
"transcript": "ENST00000409875.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 229,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1118,
"cdna_start": 544,
"cds_end": null,
"cds_length": 690,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393165.7",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376870.3",
"strand": true,
"transcript": "ENST00000393165.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 228,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1052,
"cdna_start": 481,
"cds_end": null,
"cds_length": 687,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393166.7",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376871.3",
"strand": true,
"transcript": "ENST00000393166.7",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 228,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 559,
"cds_end": null,
"cds_length": 687,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000393167.7",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376872.3",
"strand": true,
"transcript": "ENST00000393167.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 165,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": null,
"cds_end": null,
"cds_length": 498,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409842.5",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.218-423C>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386460.1",
"strand": true,
"transcript": "ENST00000409842.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000409121.6",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "n.613C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000409121.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000478880.5",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "n.157C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000478880.5",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 241,
"aa_ref": "L",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 562,
"cds_end": null,
"cds_length": 726,
"cds_start": 370,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000965205.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.370C>A",
"hgvs_p": "p.Leu124Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635264.1",
"strand": true,
"transcript": "ENST00000965205.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2413,
"cdna_start": 764,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354405.2",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341334.1",
"strand": true,
"transcript": "NM_001354405.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2175,
"cdna_start": 526,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001354406.2",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341335.1",
"strand": true,
"transcript": "NM_001354406.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 522,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001354407.2",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341336.1",
"strand": true,
"transcript": "NM_001354407.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2330,
"cdna_start": 681,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354408.2",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341337.1",
"strand": true,
"transcript": "NM_001354408.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2423,
"cdna_start": 774,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001354409.2",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341338.1",
"strand": true,
"transcript": "NM_001354409.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": 522,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896787.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566846.1",
"strand": true,
"transcript": "ENST00000896787.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 451,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896790.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566849.1",
"strand": true,
"transcript": "ENST00000896790.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 947,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896791.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566850.1",
"strand": true,
"transcript": "ENST00000896791.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 645,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000965202.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635261.1",
"strand": true,
"transcript": "ENST00000965202.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 239,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 640,
"cds_end": null,
"cds_length": 720,
"cds_start": 334,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000965208.1",
"gene_hgnc_id": 9799,
"gene_symbol": "RABL2A",
"hgvs_c": "c.334C>A",
"hgvs_p": "p.Leu112Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635267.1",
"strand": true,
"transcript": "ENST00000965208.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 238,
"aa_ref": "L",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 522,
"cds_end": null,
"cds_length": 717,
"cds_start": 334,
"consequences": [
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