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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: 5-32588543-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=32588543&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SUB1",
"hgnc_id": 19985,
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_006713.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0941,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33599215745925903,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 101,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_006713.4",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265073.9",
"protein_coding": true,
"protein_id": "NP_006704.3",
"strand": true,
"transcript": "NM_006713.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 101,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000265073.9",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006713.4",
"protein_coding": true,
"protein_id": "ENSP00000265073.4",
"strand": true,
"transcript": "ENST00000265073.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1658,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000511615.5",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "n.31A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423356.1",
"strand": true,
"transcript": "ENST00000511615.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 142,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 748,
"cdna_start": 101,
"cds_end": null,
"cds_length": 429,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922101.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592160.1",
"strand": true,
"transcript": "ENST00000922101.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 562,
"cdna_start": 143,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000502897.5",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427100.1",
"strand": true,
"transcript": "ENST00000502897.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4092,
"cdna_start": 316,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000506237.6",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422078.1",
"strand": true,
"transcript": "ENST00000506237.6",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 684,
"cdna_start": 215,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000512913.5",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422806.1",
"strand": true,
"transcript": "ENST00000512913.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 771,
"cdna_start": 220,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515355.5",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426850.1",
"strand": true,
"transcript": "ENST00000515355.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 856,
"cdna_start": 254,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879054.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549113.1",
"strand": true,
"transcript": "ENST00000879054.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3493,
"cdna_start": 145,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879056.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549115.1",
"strand": true,
"transcript": "ENST00000879056.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3572,
"cdna_start": 2970,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000879059.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549118.1",
"strand": true,
"transcript": "ENST00000879059.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 769,
"cdna_start": 178,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879060.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549119.1",
"strand": true,
"transcript": "ENST00000879060.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1035,
"cdna_start": 461,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879061.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549120.1",
"strand": true,
"transcript": "ENST00000879061.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 770,
"cdna_start": 171,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879062.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549121.1",
"strand": true,
"transcript": "ENST00000879062.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 801,
"cdna_start": 205,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000922100.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592159.1",
"strand": true,
"transcript": "ENST00000922100.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1019,
"cdna_start": 445,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954958.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625017.1",
"strand": true,
"transcript": "ENST00000954958.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 127,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 905,
"cdna_start": 305,
"cds_end": null,
"cds_length": 384,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000954959.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625018.1",
"strand": true,
"transcript": "ENST00000954959.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 125,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3590,
"cdna_start": 159,
"cds_end": null,
"cds_length": 378,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000879055.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549114.1",
"strand": true,
"transcript": "ENST00000879055.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 125,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 953,
"cdna_start": 376,
"cds_end": null,
"cds_length": 378,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922097.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592156.1",
"strand": true,
"transcript": "ENST00000922097.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 125,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1075,
"cdna_start": 479,
"cds_end": null,
"cds_length": 378,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922102.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592161.1",
"strand": true,
"transcript": "ENST00000922102.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 125,
"aa_ref": "S",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": 204,
"cds_end": null,
"cds_length": 378,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000954957.1",
"gene_hgnc_id": 19985,
"gene_symbol": "SUB1",
"hgvs_c": "c.31A>G",
"hgvs_p": "p.Ser11Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625016.1",
"strand": true,
"transcript": "ENST00000954957.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 123,
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