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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: 2-108468993-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=108468993&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 108468993,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_181453.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "NM_181453.4",
"protein_id": "NP_852118.2",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1684,
"cds_start": 230,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": "ENST00000309863.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181453.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000309863.11",
"protein_id": "ENSP00000307939.5",
"transcript_support_level": 5,
"aa_start": 77,
"aa_end": null,
"aa_length": 1684,
"cds_start": 230,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 6909,
"mane_select": "NM_181453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309863.11"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "n.*7G>C",
"hgvs_p": null,
"transcript": "ENST00000482325.5",
"protein_id": "ENSP00000419969.1",
"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": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482325.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "n.*7G>C",
"hgvs_p": null,
"transcript": "ENST00000482325.5",
"protein_id": "ENSP00000419969.1",
"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": 6772,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000482325.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000926769.1",
"protein_id": "ENSP00000596828.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1688,
"cds_start": 230,
"cds_end": null,
"cds_length": 5067,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 6858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926769.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000926767.1",
"protein_id": "ENSP00000596826.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1682,
"cds_start": 230,
"cds_end": null,
"cds_length": 5049,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 6865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926767.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000687399.1",
"protein_id": "ENSP00000509332.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1638,
"cds_start": 230,
"cds_end": null,
"cds_length": 4917,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 6839,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000687399.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.77G>C",
"hgvs_p": "p.Arg26Pro",
"transcript": "ENST00000692694.1",
"protein_id": "ENSP00000509242.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1633,
"cds_start": 77,
"cds_end": null,
"cds_length": 4902,
"cdna_start": 146,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000692694.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000926766.1",
"protein_id": "ENSP00000596825.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1629,
"cds_start": 230,
"cds_end": null,
"cds_length": 4890,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 6715,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926766.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "ENST00000953175.1",
"protein_id": "ENSP00000623234.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 1399,
"cds_start": 230,
"cds_end": null,
"cds_length": 4200,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 6026,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953175.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.119G>C",
"hgvs_p": "p.Arg40Pro",
"transcript": "ENST00000409896.1",
"protein_id": "ENSP00000386997.1",
"transcript_support_level": 5,
"aa_start": 40,
"aa_end": null,
"aa_length": 915,
"cds_start": 119,
"cds_end": null,
"cds_length": 2749,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 2908,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409896.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.239G>C",
"hgvs_p": "p.Arg80Pro",
"transcript": "ENST00000409821.5",
"protein_id": "ENSP00000387350.1",
"transcript_support_level": 3,
"aa_start": 80,
"aa_end": null,
"aa_length": 246,
"cds_start": 239,
"cds_end": null,
"cds_length": 742,
"cdna_start": 283,
"cdna_end": null,
"cdna_length": 786,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409821.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.239G>C",
"hgvs_p": "p.Arg80Pro",
"transcript": "XM_006712870.4",
"protein_id": "XP_006712933.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1687,
"cds_start": 239,
"cds_end": null,
"cds_length": 5064,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 6918,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712870.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.239G>C",
"hgvs_p": "p.Arg80Pro",
"transcript": "XM_047446447.1",
"protein_id": "XP_047302403.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1320,
"cds_start": 239,
"cds_end": null,
"cds_length": 3963,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 4135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446447.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.239G>C",
"hgvs_p": "p.Arg80Pro",
"transcript": "XM_047446448.1",
"protein_id": "XP_047302404.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 1257,
"cds_start": 239,
"cds_end": null,
"cds_length": 3774,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3947,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446448.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.239G>C",
"hgvs_p": "p.Arg80Pro",
"transcript": "XM_006712872.4",
"protein_id": "XP_006712935.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 977,
"cds_start": 239,
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"cds_length": 2934,
"cdna_start": 308,
"cdna_end": null,
"cdna_length": 3723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712872.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.230G>C",
"hgvs_p": "p.Arg77Pro",
"transcript": "XM_047446449.1",
"protein_id": "XP_047302405.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 974,
"cds_start": 230,
"cds_end": null,
"cds_length": 2925,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446449.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.-74G>C",
"hgvs_p": null,
"transcript": "NM_001410194.1",
"protein_id": "NP_001397123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": null,
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"cds_length": 4752,
"cdna_start": null,
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"cdna_length": 6824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410194.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.-74G>C",
"hgvs_p": null,
"transcript": "ENST00000685519.1",
"protein_id": "ENSP00000508981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 6714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000685519.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.-74G>C",
"hgvs_p": null,
"transcript": "XM_006712871.2",
"protein_id": "XP_006712934.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1583,
"cds_start": null,
"cds_end": null,
"cds_length": 4752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6833,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712871.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "c.217-3834G>C",
"hgvs_p": null,
"transcript": "ENST00000926768.1",
"protein_id": "ENSP00000596827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 831,
"cds_start": null,
"cds_end": null,
"cds_length": 2496,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4307,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000926768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GCC2",
"gene_hgnc_id": 23218,
"hgvs_c": "n.292G>C",
"hgvs_p": null,
"transcript": "ENST00000467566.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 764,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000467566.2"
},
{
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}