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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: 20-1180910-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=1180910&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM74B",
"hgnc_id": 15893,
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_018354.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "PSMF1",
"hgnc_id": 9571,
"hgvs_c": "c.243-5430C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000381898.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 9,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0801,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11511269211769104,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001304748.2",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000429036.2",
"protein_coding": true,
"protein_id": "NP_001291677.1",
"strand": false,
"transcript": "NM_001304748.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000429036.2",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001304748.2",
"protein_coding": true,
"protein_id": "ENSP00000400552.2",
"strand": false,
"transcript": "ENST00000429036.2",
"transcript_support_level": 3
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1730,
"cdna_start": 1381,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000381894.3",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371318.3",
"strand": false,
"transcript": "ENST00000381894.3",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001387330.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374259.1",
"strand": false,
"transcript": "NM_001387330.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 1655,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001387331.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374260.1",
"strand": false,
"transcript": "NM_001387331.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001387332.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374261.1",
"strand": false,
"transcript": "NM_001387332.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001387333.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374262.1",
"strand": false,
"transcript": "NM_001387333.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001387334.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374263.1",
"strand": false,
"transcript": "NM_001387334.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_018354.3",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_060824.1",
"strand": false,
"transcript": "NM_018354.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1663,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000866484.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536543.1",
"strand": false,
"transcript": "ENST00000866484.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1491,
"cdna_start": 1153,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866486.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536544.1",
"strand": false,
"transcript": "ENST00000866486.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1538,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866487.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536546.1",
"strand": false,
"transcript": "ENST00000866487.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935819.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605878.1",
"strand": false,
"transcript": "ENST00000935819.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1405,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000935820.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605879.1",
"strand": false,
"transcript": "ENST00000935820.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1908,
"cdna_start": 1567,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964217.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634276.1",
"strand": false,
"transcript": "ENST00000964217.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964218.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634277.1",
"strand": false,
"transcript": "ENST00000964218.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1731,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000964219.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634278.1",
"strand": false,
"transcript": "ENST00000964219.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 256,
"aa_ref": "A",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1601,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 771,
"cds_start": 709,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964220.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.709G>A",
"hgvs_p": "p.Ala237Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634279.1",
"strand": false,
"transcript": "ENST00000964220.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 232,
"aa_ref": "A",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1801,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 699,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001304749.2",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Ala213Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001291678.1",
"strand": false,
"transcript": "NM_001304749.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 232,
"aa_ref": "A",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1548,
"cdna_start": 1208,
"cds_end": null,
"cds_length": 699,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001387329.1",
"gene_hgnc_id": 15893,
"gene_symbol": "TMEM74B",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Ala213Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374258.1",
"strand": false,
"transcript": "NM_001387329.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 313,
"aa_ref": "A",
"aa_start": 294,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4033,
"cdna_start": 3693,
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