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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: 12-26231053-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=26231053&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SSPN",
"hgnc_id": 11322,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Glu237Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_005086.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000255750",
"hgnc_id": null,
"hgvs_c": "n.249C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000540625.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "SSPN-AS1",
"hgnc_id": 56072,
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_187464.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 13,
"alphamissense_prediction": null,
"alphamissense_score": 0.0696,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "12",
"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": 0.05478784441947937,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 243,
"aa_ref": "E",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 809,
"cds_end": null,
"cds_length": 732,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_005086.5",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Glu237Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000242729.7",
"protein_coding": true,
"protein_id": "NP_005077.2",
"strand": true,
"transcript": "NM_005086.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 243,
"aa_ref": "E",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4533,
"cdna_start": 809,
"cds_end": null,
"cds_length": 732,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000242729.7",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Glu237Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005086.5",
"protein_coding": true,
"protein_id": "ENSP00000242729.2",
"strand": true,
"transcript": "ENST00000242729.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 128,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 419,
"cdna_start": null,
"cds_end": null,
"cds_length": 387,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000535504.1",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.366+6674G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438801.1",
"strand": true,
"transcript": "ENST00000535504.1",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 214,
"aa_ref": "E",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 708,
"cds_end": null,
"cds_length": 645,
"cds_start": 622,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000858023.1",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Glu208Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000528082.1",
"strand": true,
"transcript": "ENST00000858023.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "E",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4350,
"cdna_start": 626,
"cds_end": null,
"cds_length": 423,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001135823.1",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129295.1",
"strand": true,
"transcript": "NM_001135823.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "E",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4348,
"cdna_start": 622,
"cds_end": null,
"cds_length": 423,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000422622.3",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396087.2",
"strand": true,
"transcript": "ENST00000422622.3",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "E",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 587,
"cdna_start": 494,
"cds_end": null,
"cds_length": 423,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540266.5",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442893.1",
"strand": true,
"transcript": "ENST00000540266.5",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "E",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 592,
"cds_end": null,
"cds_length": 423,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011520853.4",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519155.1",
"strand": true,
"transcript": "XM_011520853.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "E",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4464,
"cdna_start": 740,
"cds_end": null,
"cds_length": 423,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011520854.3",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519156.1",
"strand": true,
"transcript": "XM_011520854.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 140,
"aa_ref": "E",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 475,
"cds_end": null,
"cds_length": 423,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011520855.2",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "c.400G>A",
"hgvs_p": "p.Glu134Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011519157.1",
"strand": true,
"transcript": "XM_011520855.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000537525.6",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255750",
"hgvs_c": "n.290C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000537525.6",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 483,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540625.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255750",
"hgvs_c": "n.249C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000540625.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000659327.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000255750",
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000659327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2670,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_187464.1",
"gene_hgnc_id": 56072,
"gene_symbol": "SSPN-AS1",
"hgvs_c": "n.295C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_187464.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2607,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NR_187465.1",
"gene_hgnc_id": 56072,
"gene_symbol": "SSPN-AS1",
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_187465.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2790,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NR_187466.1",
"gene_hgnc_id": 56072,
"gene_symbol": "SSPN-AS1",
"hgvs_c": "n.415C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_187466.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3331,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NR_187467.1",
"gene_hgnc_id": 56072,
"gene_symbol": "SSPN-AS1",
"hgvs_c": "n.956C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "NR_187467.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 380,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534829.5",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "n.102-21815G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000534829.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540392.1",
"gene_hgnc_id": 56072,
"gene_symbol": "SSPN-AS1",
"hgvs_c": "n.131-16276C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000540392.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544231.1",
"gene_hgnc_id": 11322,
"gene_symbol": "SSPN",
"hgvs_c": "n.263+6674G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000544231.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 805,
"cdna_start": null,
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]
}