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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: 13-20631053-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=20631053&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 20631053,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_175605.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "NM_006531.5",
"protein_id": "NP_006522.2",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000351808.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006531.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000351808.10",
"protein_id": "ENSP00000261632.5",
"transcript_support_level": 1,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006531.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351808.10"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Ser455Thr",
"transcript": "ENST00000319980.10",
"protein_id": "ENSP00000323580.6",
"transcript_support_level": 1,
"aa_start": 455,
"aa_end": null,
"aa_length": 833,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319980.10"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Ser455Thr",
"transcript": "NM_001318493.2",
"protein_id": "NP_001305422.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 833,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318493.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Ser455Thr",
"transcript": "NM_001353565.2",
"protein_id": "NP_001340494.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 833,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353565.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Ser455Thr",
"transcript": "NM_001353566.2",
"protein_id": "NP_001340495.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 833,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353566.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Ser455Thr",
"transcript": "NM_001353567.2",
"protein_id": "NP_001340496.1",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 833,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353567.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1364G>C",
"hgvs_p": "p.Ser455Thr",
"transcript": "NM_175605.5",
"protein_id": "NP_783195.2",
"transcript_support_level": null,
"aa_start": 455,
"aa_end": null,
"aa_length": 833,
"cds_start": 1364,
"cds_end": null,
"cds_length": 2502,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175605.5"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "NM_001353568.2",
"protein_id": "NP_001340497.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353568.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894242.1",
"protein_id": "ENSP00000564301.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894242.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894243.1",
"protein_id": "ENSP00000564302.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894243.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894245.1",
"protein_id": "ENSP00000564304.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894245.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894248.1",
"protein_id": "ENSP00000564307.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894248.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894252.1",
"protein_id": "ENSP00000564311.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894252.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894254.1",
"protein_id": "ENSP00000564313.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894254.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000894261.1",
"protein_id": "ENSP00000564320.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894261.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000927832.1",
"protein_id": "ENSP00000597891.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927832.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000950099.1",
"protein_id": "ENSP00000620158.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950099.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000950105.1",
"protein_id": "ENSP00000620164.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950105.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000950106.1",
"protein_id": "ENSP00000620165.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950106.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000950115.1",
"protein_id": "ENSP00000620174.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950115.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IFT88",
"gene_hgnc_id": 20606,
"hgvs_c": "c.1337G>C",
"hgvs_p": "p.Ser446Thr",
"transcript": "ENST00000950118.1",
"protein_id": "ENSP00000620177.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 824,
"cds_start": 1337,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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}