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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: 2-96604334-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96604334&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 96604334,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001349256.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "NM_001115016.3",
"protein_id": "NP_001108488.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 878,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000431828.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001115016.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000431828.6",
"protein_id": "ENSP00000396749.1",
"transcript_support_level": 1,
"aa_start": 689,
"aa_end": null,
"aa_length": 878,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001115016.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431828.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "n.*1907G>T",
"hgvs_p": null,
"transcript": "ENST00000354204.10",
"protein_id": "ENSP00000346144.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000354204.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "n.2143G>T",
"hgvs_p": null,
"transcript": "ENST00000420155.5",
"protein_id": "ENSP00000414426.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000420155.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "n.2149G>T",
"hgvs_p": null,
"transcript": "ENST00000487070.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000487070.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "n.*1907G>T",
"hgvs_p": null,
"transcript": "ENST00000354204.10",
"protein_id": "ENSP00000346144.7",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000354204.10"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Val715Leu",
"transcript": "NM_001349256.2",
"protein_id": "NP_001336185.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 907,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2724,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349256.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Val715Leu",
"transcript": "NM_001349257.2",
"protein_id": "NP_001336186.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 904,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349257.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Val715Leu",
"transcript": "ENST00000666923.1",
"protein_id": "ENSP00000499674.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 904,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000666923.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Val715Leu",
"transcript": "ENST00000883013.1",
"protein_id": "ENSP00000553072.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 904,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883013.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2143G>T",
"hgvs_p": "p.Val715Leu",
"transcript": "ENST00000948575.1",
"protein_id": "ENSP00000618634.1",
"transcript_support_level": null,
"aa_start": 715,
"aa_end": null,
"aa_length": 904,
"cds_start": 2143,
"cds_end": null,
"cds_length": 2715,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948575.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2137G>T",
"hgvs_p": "p.Val713Leu",
"transcript": "NM_001349258.2",
"protein_id": "NP_001336187.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 902,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349258.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2137G>T",
"hgvs_p": "p.Val713Leu",
"transcript": "ENST00000883015.1",
"protein_id": "ENSP00000553074.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 902,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883015.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2137G>T",
"hgvs_p": "p.Val713Leu",
"transcript": "ENST00000948573.1",
"protein_id": "ENSP00000618632.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 902,
"cds_start": 2137,
"cds_end": null,
"cds_length": 2709,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948573.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000883014.1",
"protein_id": "ENSP00000553073.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 878,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883014.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000948574.1",
"protein_id": "ENSP00000618633.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 878,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948574.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000948576.1",
"protein_id": "ENSP00000618635.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 878,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948576.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000948577.1",
"protein_id": "ENSP00000618636.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 878,
"cds_start": 2065,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948577.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2059G>T",
"hgvs_p": "p.Val687Leu",
"transcript": "ENST00000883008.1",
"protein_id": "ENSP00000553067.1",
"transcript_support_level": null,
"aa_start": 687,
"aa_end": null,
"aa_length": 876,
"cds_start": 2059,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883008.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2050G>T",
"hgvs_p": "p.Val684Leu",
"transcript": "ENST00000883011.1",
"protein_id": "ENSP00000553070.1",
"transcript_support_level": null,
"aa_start": 684,
"aa_end": null,
"aa_length": 873,
"cds_start": 2050,
"cds_end": null,
"cds_length": 2622,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883011.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2044G>T",
"hgvs_p": "p.Val682Leu",
"transcript": "ENST00000948571.1",
"protein_id": "ENSP00000618630.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 871,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948571.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KANSL3",
"gene_hgnc_id": 25473,
"hgvs_c": "c.2065G>T",
"hgvs_p": "p.Val689Leu",
"transcript": "ENST00000883009.1",
"protein_id": "ENSP00000553068.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 867,
"cds_start": 2065,
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"phenotype_combined": "not specified",
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}
],
"message": null
}