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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: 2-27099738-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=27099738&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 27099738,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000221.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.885T>C",
"hgvs_p": "p.Asp295Asp",
"transcript": "NM_006488.3",
"protein_id": "NP_006479.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 298,
"cds_start": 885,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": "ENST00000260598.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006488.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.885T>C",
"hgvs_p": "p.Asp295Asp",
"transcript": "ENST00000260598.10",
"protein_id": "ENSP00000260598.5",
"transcript_support_level": 2,
"aa_start": 295,
"aa_end": null,
"aa_length": 298,
"cds_start": 885,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": "NM_006488.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260598.10"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.885T>C",
"hgvs_p": "p.Asp295Asp",
"transcript": "ENST00000260599.11",
"protein_id": "ENSP00000260599.6",
"transcript_support_level": 1,
"aa_start": 295,
"aa_end": null,
"aa_length": 298,
"cds_start": 885,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000260599.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "n.811T>C",
"hgvs_p": null,
"transcript": "ENST00000464371.1",
"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": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000464371.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.1134T>C",
"hgvs_p": "p.Asp378Asp",
"transcript": "ENST00000908283.1",
"protein_id": "ENSP00000578342.1",
"transcript_support_level": null,
"aa_start": 378,
"aa_end": null,
"aa_length": 381,
"cds_start": 1134,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 1195,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908283.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.1023T>C",
"hgvs_p": "p.Asp341Asp",
"transcript": "ENST00000908272.1",
"protein_id": "ENSP00000578331.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 344,
"cds_start": 1023,
"cds_end": null,
"cds_length": 1035,
"cdna_start": 1550,
"cdna_end": null,
"cdna_length": 2584,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908272.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.1020T>C",
"hgvs_p": "p.Asp340Asp",
"transcript": "ENST00000429697.2",
"protein_id": "ENSP00000404741.2",
"transcript_support_level": 5,
"aa_start": 340,
"aa_end": null,
"aa_length": 343,
"cds_start": 1020,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 1717,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429697.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.1017T>C",
"hgvs_p": "p.Asp339Asp",
"transcript": "ENST00000908284.1",
"protein_id": "ENSP00000578343.1",
"transcript_support_level": null,
"aa_start": 339,
"aa_end": null,
"aa_length": 342,
"cds_start": 1017,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1078,
"cdna_end": null,
"cdna_length": 1308,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908284.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.999T>C",
"hgvs_p": "p.Asp333Asp",
"transcript": "ENST00000908277.1",
"protein_id": "ENSP00000578336.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 336,
"cds_start": 999,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1483,
"cdna_end": null,
"cdna_length": 2492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908277.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.999T>C",
"hgvs_p": "p.Asp333Asp",
"transcript": "ENST00000908281.1",
"protein_id": "ENSP00000578340.1",
"transcript_support_level": null,
"aa_start": 333,
"aa_end": null,
"aa_length": 336,
"cds_start": 999,
"cds_end": null,
"cds_length": 1011,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908281.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.906T>C",
"hgvs_p": "p.Asp302Asp",
"transcript": "ENST00000908280.1",
"protein_id": "ENSP00000578339.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 305,
"cds_start": 906,
"cds_end": null,
"cds_length": 918,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 1648,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908280.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.903T>C",
"hgvs_p": "p.Asp301Asp",
"transcript": "ENST00000908275.1",
"protein_id": "ENSP00000578334.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 304,
"cds_start": 903,
"cds_end": null,
"cds_length": 915,
"cdna_start": 1425,
"cdna_end": null,
"cdna_length": 2427,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908275.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.888T>C",
"hgvs_p": "p.Asp296Asp",
"transcript": "ENST00000908274.1",
"protein_id": "ENSP00000578333.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 299,
"cds_start": 888,
"cds_end": null,
"cds_length": 900,
"cdna_start": 1415,
"cdna_end": null,
"cdna_length": 2422,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908274.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.885T>C",
"hgvs_p": "p.Asp295Asp",
"transcript": "NM_000221.3",
"protein_id": "NP_000212.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 298,
"cds_start": 885,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 2397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000221.3"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.885T>C",
"hgvs_p": "p.Asp295Asp",
"transcript": "ENST00000968341.1",
"protein_id": "ENSP00000638400.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 298,
"cds_start": 885,
"cds_end": null,
"cds_length": 897,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 1574,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968341.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.882T>C",
"hgvs_p": "p.Asp294Asp",
"transcript": "ENST00000908279.1",
"protein_id": "ENSP00000578338.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 297,
"cds_start": 882,
"cds_end": null,
"cds_length": 894,
"cdna_start": 954,
"cdna_end": null,
"cdna_length": 1956,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908279.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.882T>C",
"hgvs_p": "p.Asp294Asp",
"transcript": "ENST00000908285.1",
"protein_id": "ENSP00000578344.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 297,
"cds_start": 882,
"cds_end": null,
"cds_length": 894,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908285.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.882T>C",
"hgvs_p": "p.Asp294Asp",
"transcript": "ENST00000908286.1",
"protein_id": "ENSP00000578345.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 297,
"cds_start": 882,
"cds_end": null,
"cds_length": 894,
"cdna_start": 943,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908286.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.882T>C",
"hgvs_p": "p.Asp294Asp",
"transcript": "ENST00000908287.1",
"protein_id": "ENSP00000578346.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 297,
"cds_start": 882,
"cds_end": null,
"cds_length": 894,
"cdna_start": 916,
"cdna_end": null,
"cdna_length": 1146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908287.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.864T>C",
"hgvs_p": "p.Asp288Asp",
"transcript": "ENST00000908282.1",
"protein_id": "ENSP00000578341.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 291,
"cds_start": 864,
"cds_end": null,
"cds_length": 876,
"cdna_start": 945,
"cdna_end": null,
"cdna_length": 1175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908282.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.807T>C",
"hgvs_p": "p.Asp269Asp",
"transcript": "ENST00000908278.1",
"protein_id": "ENSP00000578337.1",
"transcript_support_level": null,
"aa_start": 269,
"aa_end": null,
"aa_length": 272,
"cds_start": 807,
"cds_end": null,
"cds_length": 819,
"cdna_start": 1285,
"cdna_end": null,
"cdna_length": 2268,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908278.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KHK",
"gene_hgnc_id": 6315,
"hgvs_c": "c.771T>C",
"hgvs_p": "p.Asp257Asp",
"transcript": "ENST00000913878.1",
"protein_id": "ENSP00000583937.1",
"transcript_support_level": null,
"aa_start": 257,
"aa_end": null,
"aa_length": 260,
"cds_start": 771,
"cds_end": null,
"cds_length": 783,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1512,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913878.1"
},
{
"aa_ref": "D",
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}