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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: 2-55243541-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=55243541&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 55243541,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002453.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "NM_002453.3",
"protein_id": "NP_002444.2",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263629.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002453.3"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000263629.9",
"protein_id": "ENSP00000263629.4",
"transcript_support_level": 1,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002453.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263629.9"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1487A>T",
"hgvs_p": "p.Lys496Met",
"transcript": "ENST00000956673.1",
"protein_id": "ENSP00000626732.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 743,
"cds_start": 1487,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956673.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1460A>T",
"hgvs_p": "p.Lys487Met",
"transcript": "ENST00000918027.1",
"protein_id": "ENSP00000588086.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 734,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918027.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1460A>T",
"hgvs_p": "p.Lys487Met",
"transcript": "ENST00000956667.1",
"protein_id": "ENSP00000626726.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 734,
"cds_start": 1460,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956667.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "NM_001005369.1",
"protein_id": "NP_001005369.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005369.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "NM_001321001.1",
"protein_id": "NP_001307930.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321001.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "NM_001321002.1",
"protein_id": "NP_001307931.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321002.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "NM_001321003.1",
"protein_id": "NP_001307932.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321003.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "NM_001321004.1",
"protein_id": "NP_001307933.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001321004.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000394600.7",
"protein_id": "ENSP00000378099.3",
"transcript_support_level": 2,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394600.7"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000403721.5",
"protein_id": "ENSP00000384481.1",
"transcript_support_level": 5,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000403721.5"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000853164.1",
"protein_id": "ENSP00000523223.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853164.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000853170.1",
"protein_id": "ENSP00000523229.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853170.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000853173.1",
"protein_id": "ENSP00000523232.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853173.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000853177.1",
"protein_id": "ENSP00000523236.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853177.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000853178.1",
"protein_id": "ENSP00000523237.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853178.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000918019.1",
"protein_id": "ENSP00000588078.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918019.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000918023.1",
"protein_id": "ENSP00000588082.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918023.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000918024.1",
"protein_id": "ENSP00000588083.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918024.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000918028.1",
"protein_id": "ENSP00000588087.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918028.1"
},
{
"aa_ref": "K",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTIF2",
"gene_hgnc_id": 7441,
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met",
"transcript": "ENST00000918032.1",
"protein_id": "ENSP00000588091.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 727,
"cds_start": 1439,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
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{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002453.3",
"gene_symbol": "MTIF2",
"hgnc_id": 7441,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1439A>T",
"hgvs_p": "p.Lys480Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}