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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: 5-96765303-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=96765303&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 96765303,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001750.7",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "NM_001750.7",
"protein_id": "NP_001741.4",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 791,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "ENST00000675179.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001750.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "ENST00000675179.1",
"protein_id": "ENSP00000501872.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 791,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2062,
"cdna_end": null,
"cdna_length": 4490,
"mane_select": "NM_001750.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675179.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1766A>C",
"hgvs_p": "p.Lys589Thr",
"transcript": "ENST00000341926.7",
"protein_id": "ENSP00000339914.3",
"transcript_support_level": 1,
"aa_start": 589,
"aa_end": null,
"aa_length": 708,
"cds_start": 1766,
"cds_end": null,
"cds_length": 2127,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2487,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000341926.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1727A>C",
"hgvs_p": "p.Lys576Thr",
"transcript": "ENST00000338252.7",
"protein_id": "ENSP00000343421.3",
"transcript_support_level": 1,
"aa_start": 576,
"aa_end": null,
"aa_length": 695,
"cds_start": 1727,
"cds_end": null,
"cds_length": 2088,
"cdna_start": 1994,
"cdna_end": null,
"cdna_length": 2972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338252.7"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1700A>C",
"hgvs_p": "p.Lys567Thr",
"transcript": "ENST00000309190.9",
"protein_id": "ENSP00000312523.5",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 686,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2061,
"cdna_start": 1854,
"cdna_end": null,
"cdna_length": 4282,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309190.9"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1661A>C",
"hgvs_p": "p.Lys554Thr",
"transcript": "ENST00000509903.5",
"protein_id": "ENSP00000426946.1",
"transcript_support_level": 1,
"aa_start": 554,
"aa_end": null,
"aa_length": 673,
"cds_start": 1661,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1810,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509903.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1034A>C",
"hgvs_p": "p.Lys345Thr",
"transcript": "ENST00000510500.5",
"protein_id": "ENSP00000424160.1",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 464,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510500.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1019A>C",
"hgvs_p": "p.Lys340Thr",
"transcript": "ENST00000437034.6",
"protein_id": "ENSP00000412374.2",
"transcript_support_level": 1,
"aa_start": 340,
"aa_end": null,
"aa_length": 435,
"cds_start": 1019,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 3377,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437034.6"
},
{
"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": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "ERAP1",
"gene_hgnc_id": 18173,
"hgvs_c": "c.2819-2075T>G",
"hgvs_p": null,
"transcript": "ENST00000296754.7",
"protein_id": "ENSP00000296754.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 948,
"cds_start": null,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296754.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "n.1708A>C",
"hgvs_p": null,
"transcript": "ENST00000348386.7",
"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": 2272,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000348386.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "n.932A>C",
"hgvs_p": null,
"transcript": "ENST00000484552.6",
"protein_id": "ENSP00000432878.2",
"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": 1767,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000484552.6"
},
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "n.251A>C",
"hgvs_p": null,
"transcript": "ENST00000510098.1",
"protein_id": "ENSP00000427195.1",
"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": 1323,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000510098.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "ENST00000508830.5",
"protein_id": "ENSP00000425721.1",
"transcript_support_level": 5,
"aa_start": 672,
"aa_end": null,
"aa_length": 791,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2178,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000508830.5"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "ENST00000852912.1",
"protein_id": "ENSP00000522971.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 791,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2196,
"cdna_end": null,
"cdna_length": 3346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852912.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.2015A>C",
"hgvs_p": "p.Lys672Thr",
"transcript": "ENST00000852916.1",
"protein_id": "ENSP00000522975.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 791,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2376,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 2814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852916.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.1958A>C",
"hgvs_p": "p.Lys653Thr",
"transcript": "NM_001042441.3",
"protein_id": "NP_001035906.1",
"transcript_support_level": null,
"aa_start": 653,
"aa_end": null,
"aa_length": 772,
"cds_start": 1958,
"cds_end": null,
"cds_length": 2319,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 4433,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042441.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": 1515,
"hgvs_c": "c.1949A>C",
"hgvs_p": "p.Lys650Thr",
"transcript": "NM_001042442.3",
"protein_id": "NP_001035907.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 769,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 4424,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042442.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1949A>C",
"hgvs_p": "p.Lys650Thr",
"transcript": "ENST00000674984.1",
"protein_id": "ENSP00000501713.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 769,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 4330,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674984.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1949A>C",
"hgvs_p": "p.Lys650Thr",
"transcript": "ENST00000852909.1",
"protein_id": "ENSP00000522968.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 769,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 4573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852909.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1949A>C",
"hgvs_p": "p.Lys650Thr",
"transcript": "ENST00000852911.1",
"protein_id": "ENSP00000522970.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 769,
"cds_start": 1949,
"cds_end": null,
"cds_length": 2310,
"cdna_start": 2152,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852911.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"transcript": "ENST00000852908.1",
"protein_id": "ENSP00000522967.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 768,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2312,
"cdna_end": null,
"cdna_length": 4570,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852908.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CAST",
"gene_hgnc_id": null,
"hgvs_c": "c.1946A>C",
"hgvs_p": "p.Lys649Thr",
"transcript": "ENST00000852910.1",
"protein_id": "ENSP00000522969.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 768,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2307,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 4564,
"mane_select": null,
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{
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"verdict": "Uncertain_significance",
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{
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],
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}