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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: 2-9356209-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=9356209&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 9356209,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003887.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1191A>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "NM_003887.3",
"protein_id": "NP_003878.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1191,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": "ENST00000281419.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003887.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1191A>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "ENST00000281419.8",
"protein_id": "ENSP00000281419.3",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 1006,
"cds_start": 1191,
"cds_end": null,
"cds_length": 3021,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": "NM_003887.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000281419.8"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1191A>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "ENST00000315273.4",
"protein_id": "ENSP00000316404.4",
"transcript_support_level": 1,
"aa_start": 397,
"aa_end": null,
"aa_length": 961,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000315273.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1224A>C",
"hgvs_p": "p.Glu408Asp",
"transcript": "ENST00000865541.1",
"protein_id": "ENSP00000535600.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1224,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1488,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865541.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1116A>C",
"hgvs_p": "p.Glu372Asp",
"transcript": "ENST00000938589.1",
"protein_id": "ENSP00000608648.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 981,
"cds_start": 1116,
"cds_end": null,
"cds_length": 2946,
"cdna_start": 1463,
"cdna_end": null,
"cdna_length": 5644,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938589.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1104A>C",
"hgvs_p": "p.Glu368Asp",
"transcript": "ENST00000865542.1",
"protein_id": "ENSP00000535601.1",
"transcript_support_level": null,
"aa_start": 368,
"aa_end": null,
"aa_length": 977,
"cds_start": 1104,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 4998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865542.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1116A>C",
"hgvs_p": "p.Glu372Asp",
"transcript": "ENST00000938590.1",
"protein_id": "ENSP00000608649.1",
"transcript_support_level": null,
"aa_start": 372,
"aa_end": null,
"aa_length": 977,
"cds_start": 1116,
"cds_end": null,
"cds_length": 2934,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 5557,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938590.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1191A>C",
"hgvs_p": "p.Glu397Asp",
"transcript": "NM_001135191.2",
"protein_id": "NP_001128663.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 961,
"cds_start": 1191,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 1484,
"cdna_end": null,
"cdna_length": 5530,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135191.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.729A>C",
"hgvs_p": "p.Glu243Asp",
"transcript": "ENST00000641030.1",
"protein_id": "ENSP00000493293.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 315,
"cds_start": 729,
"cds_end": null,
"cds_length": 948,
"cdna_start": 730,
"cdna_end": null,
"cdna_length": 949,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000641030.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1233A>C",
"hgvs_p": "p.Glu411Asp",
"transcript": "XM_011510403.4",
"protein_id": "XP_011508705.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 1020,
"cds_start": 1233,
"cds_end": null,
"cds_length": 3063,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 5707,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510403.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1224A>C",
"hgvs_p": "p.Glu408Asp",
"transcript": "XM_011510404.3",
"protein_id": "XP_011508706.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 1017,
"cds_start": 1224,
"cds_end": null,
"cds_length": 3054,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5698,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510404.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1200A>C",
"hgvs_p": "p.Glu400Asp",
"transcript": "XM_006711898.2",
"protein_id": "XP_006711961.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 1009,
"cds_start": 1200,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 5674,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711898.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1158A>C",
"hgvs_p": "p.Glu386Asp",
"transcript": "XM_011510405.4",
"protein_id": "XP_011508707.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 995,
"cds_start": 1158,
"cds_end": null,
"cds_length": 2988,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 5632,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510405.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1149A>C",
"hgvs_p": "p.Glu383Asp",
"transcript": "XM_047446199.1",
"protein_id": "XP_047302155.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 992,
"cds_start": 1149,
"cds_end": null,
"cds_length": 2979,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 5623,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446199.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1125A>C",
"hgvs_p": "p.Glu375Asp",
"transcript": "XM_047446200.1",
"protein_id": "XP_047302156.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 984,
"cds_start": 1125,
"cds_end": null,
"cds_length": 2955,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5599,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446200.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1107A>C",
"hgvs_p": "p.Glu369Asp",
"transcript": "XM_011510406.3",
"protein_id": "XP_011508708.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 978,
"cds_start": 1107,
"cds_end": null,
"cds_length": 2937,
"cdna_start": 1586,
"cdna_end": null,
"cdna_length": 5767,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510406.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1233A>C",
"hgvs_p": "p.Glu411Asp",
"transcript": "XM_011510407.3",
"protein_id": "XP_011508709.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 975,
"cds_start": 1233,
"cds_end": null,
"cds_length": 2928,
"cdna_start": 1526,
"cdna_end": null,
"cdna_length": 5572,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510407.3"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1224A>C",
"hgvs_p": "p.Glu408Asp",
"transcript": "XM_047446201.1",
"protein_id": "XP_047302157.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 972,
"cds_start": 1224,
"cds_end": null,
"cds_length": 2919,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 5563,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446201.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1083A>C",
"hgvs_p": "p.Glu361Asp",
"transcript": "XM_006711901.4",
"protein_id": "XP_006711964.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 970,
"cds_start": 1083,
"cds_end": null,
"cds_length": 2913,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 5368,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711901.4"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1074A>C",
"hgvs_p": "p.Glu358Asp",
"transcript": "XM_047446202.1",
"protein_id": "XP_047302158.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 967,
"cds_start": 1074,
"cds_end": null,
"cds_length": 2904,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 5359,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446202.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1200A>C",
"hgvs_p": "p.Glu400Asp",
"transcript": "XM_006711902.2",
"protein_id": "XP_006711965.1",
"transcript_support_level": null,
"aa_start": 400,
"aa_end": null,
"aa_length": 964,
"cds_start": 1200,
"cds_end": null,
"cds_length": 2895,
"cdna_start": 1493,
"cdna_end": null,
"cdna_length": 5539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006711902.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASAP2",
"gene_hgnc_id": 2721,
"hgvs_c": "c.1056A>C",
"hgvs_p": "p.Glu352Asp",
"transcript": "XM_047446205.1",
"protein_id": "XP_047302161.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 961,
"cds_start": 1056,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 5697,
"cdna_end": null,
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],
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],
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"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003887.3",
"gene_symbol": "ASAP2",
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"effects": [
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],
"inheritance_mode": "",
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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
}