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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: 3-184354548-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=184354548&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 184354548,
"ref": "C",
"alt": "G",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000265593.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "NM_004366.6",
"protein_id": "NP_004357.3",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 898,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "ENST00000265593.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "ENST00000265593.9",
"protein_id": "ENSP00000265593.4",
"transcript_support_level": 1,
"aa_start": 503,
"aa_end": null,
"aa_length": 898,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2697,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3244,
"mane_select": "NM_004366.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Gly486Arg",
"transcript": "ENST00000344937.11",
"protein_id": "ENSP00000345056.7",
"transcript_support_level": 1,
"aa_start": 486,
"aa_end": null,
"aa_length": 881,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 3187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.372G>C",
"hgvs_p": null,
"transcript": "ENST00000430397.5",
"protein_id": "ENSP00000396231.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1844,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1456G>C",
"hgvs_p": "p.Gly486Arg",
"transcript": "NM_001171087.3",
"protein_id": "NP_001164558.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 881,
"cds_start": 1456,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 1582,
"cdna_end": null,
"cdna_length": 3193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "NM_001171089.3",
"protein_id": "NP_001164560.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 869,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "ENST00000457512.1",
"protein_id": "ENSP00000391928.1",
"transcript_support_level": 2,
"aa_start": 503,
"aa_end": null,
"aa_length": 869,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2610,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2820,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1375G>C",
"hgvs_p": "p.Gly459Arg",
"transcript": "NM_001171088.3",
"protein_id": "NP_001164559.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 854,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 3112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1375G>C",
"hgvs_p": "p.Gly459Arg",
"transcript": "ENST00000434054.6",
"protein_id": "ENSP00000400425.2",
"transcript_support_level": 2,
"aa_start": 459,
"aa_end": null,
"aa_length": 854,
"cds_start": 1375,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 1499,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1390G>C",
"hgvs_p": "p.Gly464Arg",
"transcript": "ENST00000636492.1",
"protein_id": "ENSP00000490313.1",
"transcript_support_level": 5,
"aa_start": 464,
"aa_end": null,
"aa_length": 464,
"cds_start": 1390,
"cds_end": null,
"cds_length": 1395,
"cdna_start": 1390,
"cdna_end": null,
"cdna_length": 1395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.160G>C",
"hgvs_p": "p.Gly54Arg",
"transcript": "ENST00000636419.1",
"protein_id": "ENSP00000489724.1",
"transcript_support_level": 5,
"aa_start": 54,
"aa_end": null,
"aa_length": 94,
"cds_start": 160,
"cds_end": null,
"cds_length": 286,
"cdna_start": 161,
"cdna_end": null,
"cdna_length": 287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "XM_006713489.2",
"protein_id": "XP_006713552.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 863,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2592,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 3139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1507G>C",
"hgvs_p": "p.Gly503Arg",
"transcript": "XM_011512401.2",
"protein_id": "XP_011510703.1",
"transcript_support_level": null,
"aa_start": 503,
"aa_end": null,
"aa_length": 835,
"cds_start": 1507,
"cds_end": null,
"cds_length": 2508,
"cdna_start": 1633,
"cdna_end": null,
"cdna_length": 6968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "c.1563G>C",
"hgvs_p": "p.Ser521Ser",
"transcript": "XM_047447419.1",
"protein_id": "XP_047303375.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 529,
"cds_start": 1563,
"cds_end": null,
"cds_length": 1590,
"cdna_start": 1689,
"cdna_end": null,
"cdna_length": 1904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*549G>C",
"hgvs_p": null,
"transcript": "ENST00000475279.2",
"protein_id": "ENSP00000489885.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 938,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*539G>C",
"hgvs_p": null,
"transcript": "ENST00000636180.1",
"protein_id": "ENSP00000490374.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.1320G>C",
"hgvs_p": null,
"transcript": "ENST00000636241.1",
"protein_id": "ENSP00000490299.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*1697G>C",
"hgvs_p": null,
"transcript": "ENST00000636661.1",
"protein_id": "ENSP00000490764.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.3183G>C",
"hgvs_p": null,
"transcript": "ENST00000637392.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.741G>C",
"hgvs_p": null,
"transcript": "ENST00000637538.1",
"protein_id": "ENSP00000490682.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*396G>C",
"hgvs_p": null,
"transcript": "ENST00000637909.1",
"protein_id": "ENSP00000490570.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLCN2",
"gene_hgnc_id": 2020,
"hgvs_c": "n.*883G>C",
"hgvs_p": null,
"transcript": "ENST00000638134.1",
"protein_id": "ENSP00000490659.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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{
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"verdict": "Likely_pathogenic",
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}
],
"message": null
}