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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: 19-45616558-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=45616558&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 45616558,
"ref": "T",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001193268.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1412A>C",
"hgvs_p": "p.Asp471Ala",
"transcript": "NM_012155.4",
"protein_id": "NP_036287.1",
"transcript_support_level": null,
"aa_start": 471,
"aa_end": null,
"aa_length": 649,
"cds_start": 1412,
"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": "D",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1412A>C",
"hgvs_p": "p.Asp471Ala",
"transcript": "ENST00000245925.8",
"protein_id": "ENSP00000245925.3",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 649,
"cds_start": 1412,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1412A>C",
"hgvs_p": "p.Asp471Ala",
"transcript": "ENST00000589876.5",
"protein_id": "ENSP00000464789.1",
"transcript_support_level": 1,
"aa_start": 471,
"aa_end": null,
"aa_length": 773,
"cds_start": 1412,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Asp672Ala",
"transcript": "NM_001193268.3",
"protein_id": "NP_001180197.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 850,
"cds_start": 2015,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Asp672Ala",
"transcript": "ENST00000587152.6",
"protein_id": "ENSP00000468312.1",
"transcript_support_level": 2,
"aa_start": 672,
"aa_end": null,
"aa_length": 850,
"cds_start": 2015,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.2012A>C",
"hgvs_p": "p.Asp671Ala",
"transcript": "NM_001352052.1",
"protein_id": "NP_001338981.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 849,
"cds_start": 2012,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1853A>C",
"hgvs_p": "p.Asp618Ala",
"transcript": "NM_001193269.2",
"protein_id": "NP_001180198.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 796,
"cds_start": 1853,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1853A>C",
"hgvs_p": "p.Asp618Ala",
"transcript": "ENST00000536630.5",
"protein_id": "ENSP00000442365.1",
"transcript_support_level": 2,
"aa_start": 618,
"aa_end": null,
"aa_length": 796,
"cds_start": 1853,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1850A>C",
"hgvs_p": "p.Asp617Ala",
"transcript": "NM_001352053.2",
"protein_id": "NP_001338982.1",
"transcript_support_level": null,
"aa_start": 617,
"aa_end": null,
"aa_length": 795,
"cds_start": 1850,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1517A>C",
"hgvs_p": "p.Asp506Ala",
"transcript": "ENST00000905380.1",
"protein_id": "ENSP00000575439.1",
"transcript_support_level": null,
"aa_start": 506,
"aa_end": null,
"aa_length": 684,
"cds_start": 1517,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1436A>C",
"hgvs_p": "p.Asp479Ala",
"transcript": "ENST00000905379.1",
"protein_id": "ENSP00000575438.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 657,
"cds_start": 1436,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1355A>C",
"hgvs_p": "p.Asp452Ala",
"transcript": "ENST00000905381.1",
"protein_id": "ENSP00000575440.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 630,
"cds_start": 1355,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1346A>C",
"hgvs_p": "p.Asp449Ala",
"transcript": "NM_001352054.2",
"protein_id": "NP_001338983.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 627,
"cds_start": 1346,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1277A>C",
"hgvs_p": "p.Asp426Ala",
"transcript": "ENST00000905378.1",
"protein_id": "ENSP00000575437.1",
"transcript_support_level": null,
"aa_start": 426,
"aa_end": null,
"aa_length": 604,
"cds_start": 1277,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1256A>C",
"hgvs_p": "p.Asp419Ala",
"transcript": "ENST00000905382.1",
"protein_id": "ENSP00000575441.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 597,
"cds_start": 1256,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1157A>C",
"hgvs_p": "p.Asp386Ala",
"transcript": "ENST00000933602.1",
"protein_id": "ENSP00000603661.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 564,
"cds_start": 1157,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1064A>C",
"hgvs_p": "p.Asp355Ala",
"transcript": "NM_001352051.2",
"protein_id": "NP_001338980.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 533,
"cds_start": 1064,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.1031A>C",
"hgvs_p": "p.Asp344Ala",
"transcript": "ENST00000953959.1",
"protein_id": "ENSP00000624018.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 522,
"cds_start": 1031,
"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": "D",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.503A>C",
"hgvs_p": "p.Asp168Ala",
"transcript": "ENST00000590575.5",
"protein_id": "ENSP00000464764.1",
"transcript_support_level": 3,
"aa_start": 168,
"aa_end": null,
"aa_length": 180,
"cds_start": 503,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590575.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "c.187+207A>C",
"hgvs_p": null,
"transcript": "ENST00000587484.5",
"protein_id": "ENSP00000465994.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 71,
"cds_start": null,
"cds_end": null,
"cds_length": 218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587484.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
"gene_hgnc_id": 18035,
"hgvs_c": "n.*196A>C",
"hgvs_p": null,
"transcript": "ENST00000399594.7",
"protein_id": "ENSP00000382503.3",
"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": "ENST00000399594.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EML2",
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"computational_prediction_selected": "Pathogenic",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
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"PP3"
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"verdict": "Uncertain_significance",
"transcript": "NM_001193268.3",
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"effects": [
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}