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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: 14-20456680-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20456680&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20456680,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001641.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "NM_001641.4",
"protein_id": "NP_001632.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": "ENST00000216714.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001641.4"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000216714.8",
"protein_id": "ENSP00000216714.3",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 1453,
"mane_select": "NM_001641.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216714.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000398030.8",
"protein_id": "ENSP00000381111.4",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398030.8"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000555414.5",
"protein_id": "ENSP00000451979.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 1437,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555414.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "n.679G>C",
"hgvs_p": null,
"transcript": "ENST00000553555.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 1603,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000553555.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.280G>C",
"hgvs_p": "p.Glu94Gln",
"transcript": "ENST00000936691.1",
"protein_id": "ENSP00000606750.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 325,
"cds_start": 280,
"cds_end": null,
"cds_length": 978,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 1474,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936691.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "NM_001244249.2",
"protein_id": "NP_001231178.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 1448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001244249.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "NM_080648.3",
"protein_id": "NP_542379.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 430,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080648.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "NM_080649.3",
"protein_id": "NP_542380.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080649.3"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000899615.1",
"protein_id": "ENSP00000569674.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 453,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899615.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000899616.1",
"protein_id": "ENSP00000569675.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 1387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899616.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000899617.1",
"protein_id": "ENSP00000569676.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 407,
"cdna_end": null,
"cdna_length": 1364,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899617.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000936690.1",
"protein_id": "ENSP00000606749.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 529,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936690.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000936693.1",
"protein_id": "ENSP00000606752.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 384,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936693.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000936695.1",
"protein_id": "ENSP00000606754.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936695.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000956430.1",
"protein_id": "ENSP00000626489.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 318,
"cds_start": 259,
"cds_end": null,
"cds_length": 957,
"cdna_start": 390,
"cdna_end": null,
"cdna_length": 1352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956430.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Glu85Gln",
"transcript": "ENST00000936687.1",
"protein_id": "ENSP00000606746.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 316,
"cds_start": 253,
"cds_end": null,
"cds_length": 951,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1478,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936687.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Glu85Gln",
"transcript": "ENST00000936688.1",
"protein_id": "ENSP00000606747.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 316,
"cds_start": 253,
"cds_end": null,
"cds_length": 951,
"cdna_start": 469,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936688.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Glu85Gln",
"transcript": "ENST00000936689.1",
"protein_id": "ENSP00000606748.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 316,
"cds_start": 253,
"cds_end": null,
"cds_length": 951,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 1640,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936689.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.253G>C",
"hgvs_p": "p.Glu85Gln",
"transcript": "ENST00000936692.1",
"protein_id": "ENSP00000606751.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 316,
"cds_start": 253,
"cds_end": null,
"cds_length": 951,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 1451,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936692.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000899618.1",
"protein_id": "ENSP00000569677.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 289,
"cds_start": 259,
"cds_end": null,
"cds_length": 870,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 1329,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899618.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APEX1",
"gene_hgnc_id": 587,
"hgvs_c": "c.259G>C",
"hgvs_p": "p.Glu87Gln",
"transcript": "ENST00000899619.1",
"protein_id": "ENSP00000569678.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 289,
"cds_start": 259,
"cds_end": null,
"cds_length": 870,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899619.1"
},
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"clinvar_review_status": "no classification provided",
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"pathogenicity_classification_combined": "not provided",
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}
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}