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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: 20-3218587-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3218587&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3218587,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001324236.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.366C>A",
"hgvs_p": "p.Thr122Thr",
"transcript": "NM_033453.4",
"protein_id": "NP_258412.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 194,
"cds_start": 366,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000380113.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033453.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.366C>A",
"hgvs_p": "p.Thr122Thr",
"transcript": "ENST00000380113.8",
"protein_id": "ENSP00000369456.3",
"transcript_support_level": 1,
"aa_start": 122,
"aa_end": null,
"aa_length": 194,
"cds_start": 366,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_033453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380113.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.315C>A",
"hgvs_p": "p.Thr105Thr",
"transcript": "ENST00000455664.6",
"protein_id": "ENSP00000413282.1",
"transcript_support_level": 1,
"aa_start": 105,
"aa_end": null,
"aa_length": 177,
"cds_start": 315,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455664.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.243C>A",
"hgvs_p": "p.Thr81Thr",
"transcript": "ENST00000399838.3",
"protein_id": "ENSP00000382732.3",
"transcript_support_level": 1,
"aa_start": 81,
"aa_end": null,
"aa_length": 153,
"cds_start": 243,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399838.3"
},
{
"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": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "n.420C>A",
"hgvs_p": null,
"transcript": "ENST00000609835.5",
"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": "retained_intron",
"feature": "ENST00000609835.5"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Pro10Gln",
"transcript": "NM_001324236.2",
"protein_id": "NP_001311165.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 110,
"cds_start": 29,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324236.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Pro10Gln",
"transcript": "NM_001324237.2",
"protein_id": "NP_001311166.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 110,
"cds_start": 29,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324237.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Pro10Gln",
"transcript": "NM_001324238.2",
"protein_id": "NP_001311167.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 110,
"cds_start": 29,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324238.2"
},
{
"aa_ref": "P",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.29C>A",
"hgvs_p": "p.Pro10Gln",
"transcript": "NM_001351739.2",
"protein_id": "NP_001338668.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 110,
"cds_start": 29,
"cds_end": null,
"cds_length": 333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351739.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.366C>A",
"hgvs_p": "p.Thr122Thr",
"transcript": "NM_001424408.1",
"protein_id": "NP_001411337.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 238,
"cds_start": 366,
"cds_end": null,
"cds_length": 717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424408.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.492C>A",
"hgvs_p": "p.Thr164Thr",
"transcript": "NM_001424409.1",
"protein_id": "NP_001411338.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 236,
"cds_start": 492,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424409.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.459C>A",
"hgvs_p": "p.Thr153Thr",
"transcript": "ENST00000900242.1",
"protein_id": "ENSP00000570301.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 225,
"cds_start": 459,
"cds_end": null,
"cds_length": 678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900242.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.408C>A",
"hgvs_p": "p.Thr136Thr",
"transcript": "ENST00000900245.1",
"protein_id": "ENSP00000570304.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 208,
"cds_start": 408,
"cds_end": null,
"cds_length": 627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900245.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.405C>A",
"hgvs_p": "p.Thr135Thr",
"transcript": "ENST00000932182.1",
"protein_id": "ENSP00000602241.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 207,
"cds_start": 405,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932182.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.360C>A",
"hgvs_p": "p.Thr120Thr",
"transcript": "ENST00000900243.1",
"protein_id": "ENSP00000570302.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 192,
"cds_start": 360,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900243.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.357C>A",
"hgvs_p": "p.Thr119Thr",
"transcript": "ENST00000900244.1",
"protein_id": "ENSP00000570303.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 191,
"cds_start": 357,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900244.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.351C>A",
"hgvs_p": "p.Thr117Thr",
"transcript": "ENST00000932185.1",
"protein_id": "ENSP00000602244.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 189,
"cds_start": 351,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932185.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.315C>A",
"hgvs_p": "p.Thr105Thr",
"transcript": "NM_181493.4",
"protein_id": "NP_852470.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 177,
"cds_start": 315,
"cds_end": null,
"cds_length": 534,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181493.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.282C>A",
"hgvs_p": "p.Thr94Thr",
"transcript": "ENST00000932186.1",
"protein_id": "ENSP00000602245.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 166,
"cds_start": 282,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932186.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.243C>A",
"hgvs_p": "p.Thr81Thr",
"transcript": "NM_001267623.2",
"protein_id": "NP_001254552.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 153,
"cds_start": 243,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267623.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.237C>A",
"hgvs_p": "p.Thr79Thr",
"transcript": "ENST00000932181.1",
"protein_id": "ENSP00000602240.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 151,
"cds_start": 237,
"cds_end": null,
"cds_length": 456,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932181.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.366C>A",
"hgvs_p": "p.Thr122Thr",
"transcript": "NM_001324240.2",
"protein_id": "NP_001311169.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 138,
"cds_start": 366,
"cds_end": null,
"cds_length": 417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324240.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
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