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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: 17-74310115-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=74310115&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DNAI2",
"hgnc_id": 18744,
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_001353167.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "LOC105371891",
"hgnc_id": null,
"hgvs_c": "n.*142C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -10,
"transcript": "XR_934970.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -13,
"allele_count_reference_population": 63,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "17",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Primary ciliary dyskinesia,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_023036.6",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311014.11",
"protein_coding": true,
"protein_id": "NP_075462.3",
"strand": true,
"transcript": "NM_023036.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000311014.11",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023036.6",
"protein_coding": true,
"protein_id": "ENSP00000308312.6",
"strand": true,
"transcript": "ENST00000311014.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 662,
"aa_ref": "S",
"aa_start": 539,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 1989,
"cds_start": 1617,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000579490.5",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1617G>T",
"hgvs_p": "p.Ser539Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464197.1",
"strand": true,
"transcript": "ENST00000579490.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 1752,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000446837.2",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000400252.2",
"strand": true,
"transcript": "ENST00000446837.2",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000582036.5",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1410G>T",
"hgvs_p": "p.Ser470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461950.1",
"strand": true,
"transcript": "ENST00000582036.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 649,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2424,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001353167.2",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340096.1",
"strand": true,
"transcript": "NM_001353167.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856951.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527010.1",
"strand": true,
"transcript": "ENST00000856951.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2579,
"cdna_start": 1541,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856952.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527011.1",
"strand": true,
"transcript": "ENST00000856952.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2575,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856953.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527012.1",
"strand": true,
"transcript": "ENST00000856953.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 1570,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856954.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527013.1",
"strand": true,
"transcript": "ENST00000856954.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856955.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527014.1",
"strand": true,
"transcript": "ENST00000856955.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 605,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000962604.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632663.1",
"strand": true,
"transcript": "ENST00000962604.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 593,
"aa_ref": "S",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2253,
"cdna_start": 1530,
"cds_end": null,
"cds_length": 1782,
"cds_start": 1410,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001172810.3",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1410G>T",
"hgvs_p": "p.Ser470Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166281.1",
"strand": true,
"transcript": "NM_001172810.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 567,
"aa_ref": "S",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2123,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 1704,
"cds_start": 1332,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000927504.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1332G>T",
"hgvs_p": "p.Ser444Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597563.1",
"strand": true,
"transcript": "ENST00000927504.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 649,
"aa_ref": "S",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1446,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_011525125.3",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "c.1446G>T",
"hgvs_p": "p.Ser482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523427.1",
"strand": true,
"transcript": "XM_011525125.3",
"transcript_support_level": null
},
{
"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": 1993,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000579055.5",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.*817G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000462767.1",
"strand": true,
"transcript": "ENST00000579055.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NR_148379.2",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.1447G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "NR_148379.2",
"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": 2497,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XR_007065388.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.1642G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007065388.1",
"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": 2421,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XR_007065389.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.1566G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007065389.1",
"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": 2395,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XR_007065390.1",
"gene_hgnc_id": 18744,
"gene_symbol": "DNAI2",
"hgvs_c": "n.1540G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "XR_007065390.1",
"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": 2398,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
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