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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: 1-25826721-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25826721&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MTFR1L",
"hgnc_id": 28836,
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_019557.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0995,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "1",
"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": 0.2693149149417877,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 508,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001099625.2",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374303.7",
"protein_coding": true,
"protein_id": "NP_001093095.1",
"strand": true,
"transcript": "NM_001099625.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1953,
"cdna_start": 508,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374303.7",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001099625.2",
"protein_coding": true,
"protein_id": "ENSP00000363421.2",
"strand": true,
"transcript": "ENST00000374303.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 608,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374300.7",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363418.3",
"strand": true,
"transcript": "ENST00000374300.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 654,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000374301.7",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363419.3",
"strand": true,
"transcript": "ENST00000374301.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 205,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1873,
"cdna_start": 533,
"cds_end": null,
"cds_length": 618,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000474295.5",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435461.1",
"strand": true,
"transcript": "ENST00000474295.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 298,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 476,
"cds_end": null,
"cds_length": 897,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859607.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529666.1",
"strand": true,
"transcript": "ENST00000859607.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 599,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001099626.2",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001093096.1",
"strand": true,
"transcript": "NM_001099626.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2084,
"cdna_start": 639,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_019557.6",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_062457.3",
"strand": true,
"transcript": "NM_019557.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 549,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859602.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529661.1",
"strand": true,
"transcript": "ENST00000859602.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 539,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859603.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529662.1",
"strand": true,
"transcript": "ENST00000859603.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 655,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859604.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529663.1",
"strand": true,
"transcript": "ENST00000859604.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 528,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859605.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529664.1",
"strand": true,
"transcript": "ENST00000859605.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 473,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859608.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529667.1",
"strand": true,
"transcript": "ENST00000859608.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2771,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859609.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529668.1",
"strand": true,
"transcript": "ENST00000859609.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": 481,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859611.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529670.1",
"strand": true,
"transcript": "ENST00000859611.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 604,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859612.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529671.1",
"strand": true,
"transcript": "ENST00000859612.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 937,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000859618.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529677.1",
"strand": true,
"transcript": "ENST00000859618.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 3419,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931849.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601908.1",
"strand": true,
"transcript": "ENST00000931849.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 625,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956474.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626533.1",
"strand": true,
"transcript": "ENST00000956474.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 512,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000956477.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000626536.1",
"strand": true,
"transcript": "ENST00000956477.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 292,
"aa_ref": "A",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 654,
"cds_end": null,
"cds_length": 879,
"cds_start": 346,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000956478.1",
"gene_hgnc_id": 28836,
"gene_symbol": "MTFR1L",
"hgvs_c": "c.346G>A",
"hgvs_p": "p.Ala116Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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