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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: 19-45613623-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45613623&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45613623,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001193268.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1742G>C",
"hgvs_p": "p.Arg581Pro",
"transcript": "NM_012155.4",
"protein_id": "NP_036287.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 649,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245925.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012155.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1742G>C",
"hgvs_p": "p.Arg581Pro",
"transcript": "ENST00000245925.8",
"protein_id": "ENSP00000245925.3",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 649,
"cds_start": 1742,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012155.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245925.8"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1742G>C",
"hgvs_p": "p.Arg581Pro",
"transcript": "ENST00000589876.5",
"protein_id": "ENSP00000464789.1",
"transcript_support_level": 1,
"aa_start": 581,
"aa_end": null,
"aa_length": 773,
"cds_start": 1742,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589876.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"transcript": "NM_001193268.3",
"protein_id": "NP_001180197.1",
"transcript_support_level": null,
"aa_start": 782,
"aa_end": null,
"aa_length": 850,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193268.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2345G>C",
"hgvs_p": "p.Arg782Pro",
"transcript": "ENST00000587152.6",
"protein_id": "ENSP00000468312.1",
"transcript_support_level": 2,
"aa_start": 782,
"aa_end": null,
"aa_length": 850,
"cds_start": 2345,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587152.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2342G>C",
"hgvs_p": "p.Arg781Pro",
"transcript": "NM_001352052.1",
"protein_id": "NP_001338981.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 849,
"cds_start": 2342,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352052.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2183G>C",
"hgvs_p": "p.Arg728Pro",
"transcript": "NM_001193269.2",
"protein_id": "NP_001180198.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 796,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193269.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2183G>C",
"hgvs_p": "p.Arg728Pro",
"transcript": "ENST00000536630.5",
"protein_id": "ENSP00000442365.1",
"transcript_support_level": 2,
"aa_start": 728,
"aa_end": null,
"aa_length": 796,
"cds_start": 2183,
"cds_end": null,
"cds_length": 2391,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536630.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2180G>C",
"hgvs_p": "p.Arg727Pro",
"transcript": "NM_001352053.2",
"protein_id": "NP_001338982.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 795,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352053.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1847G>C",
"hgvs_p": "p.Arg616Pro",
"transcript": "ENST00000905380.1",
"protein_id": "ENSP00000575439.1",
"transcript_support_level": null,
"aa_start": 616,
"aa_end": null,
"aa_length": 684,
"cds_start": 1847,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905380.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1766G>C",
"hgvs_p": "p.Arg589Pro",
"transcript": "ENST00000905379.1",
"protein_id": "ENSP00000575438.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 657,
"cds_start": 1766,
"cds_end": null,
"cds_length": 1974,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905379.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1685G>C",
"hgvs_p": "p.Arg562Pro",
"transcript": "ENST00000905381.1",
"protein_id": "ENSP00000575440.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 630,
"cds_start": 1685,
"cds_end": null,
"cds_length": 1893,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905381.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1676G>C",
"hgvs_p": "p.Arg559Pro",
"transcript": "NM_001352054.2",
"protein_id": "NP_001338983.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 627,
"cds_start": 1676,
"cds_end": null,
"cds_length": 1884,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352054.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1607G>C",
"hgvs_p": "p.Arg536Pro",
"transcript": "ENST00000905378.1",
"protein_id": "ENSP00000575437.1",
"transcript_support_level": null,
"aa_start": 536,
"aa_end": null,
"aa_length": 604,
"cds_start": 1607,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905378.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1586G>C",
"hgvs_p": "p.Arg529Pro",
"transcript": "ENST00000905382.1",
"protein_id": "ENSP00000575441.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 597,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905382.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1487G>C",
"hgvs_p": "p.Arg496Pro",
"transcript": "ENST00000933602.1",
"protein_id": "ENSP00000603661.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 564,
"cds_start": 1487,
"cds_end": null,
"cds_length": 1695,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933602.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1394G>C",
"hgvs_p": "p.Arg465Pro",
"transcript": "NM_001352051.2",
"protein_id": "NP_001338980.1",
"transcript_support_level": null,
"aa_start": 465,
"aa_end": null,
"aa_length": 533,
"cds_start": 1394,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352051.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1361G>C",
"hgvs_p": "p.Arg454Pro",
"transcript": "ENST00000953959.1",
"protein_id": "ENSP00000624018.1",
"transcript_support_level": null,
"aa_start": 454,
"aa_end": null,
"aa_length": 522,
"cds_start": 1361,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953959.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*1024G>C",
"hgvs_p": null,
"transcript": "ENST00000586195.5",
"protein_id": "ENSP00000465339.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586195.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*249G>C",
"hgvs_p": null,
"transcript": "ENST00000586405.1",
"protein_id": "ENSP00000465885.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000586405.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*292G>C",
"hgvs_p": null,
"transcript": "ENST00000588308.5",
"protein_id": "ENSP00000468329.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000588308.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.496G>C",
"hgvs_p": null,
"transcript": "ENST00000592433.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.12,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}