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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: 20-3223397-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=3223397&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 3223397,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001424409.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Ala174Ser",
"transcript": "NM_033453.4",
"protein_id": "NP_258412.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 194,
"cds_start": 520,
"cds_end": null,
"cds_length": 585,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": "ENST00000380113.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033453.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.520G>T",
"hgvs_p": "p.Ala174Ser",
"transcript": "ENST00000380113.8",
"protein_id": "ENSP00000369456.3",
"transcript_support_level": 1,
"aa_start": 174,
"aa_end": null,
"aa_length": 194,
"cds_start": 520,
"cds_end": null,
"cds_length": 585,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 1037,
"mane_select": "NM_033453.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380113.8"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Ala157Ser",
"transcript": "ENST00000455664.6",
"protein_id": "ENSP00000413282.1",
"transcript_support_level": 1,
"aa_start": 157,
"aa_end": null,
"aa_length": 177,
"cds_start": 469,
"cds_end": null,
"cds_length": 534,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 729,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000455664.6"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.397G>T",
"hgvs_p": "p.Ala133Ser",
"transcript": "ENST00000399838.3",
"protein_id": "ENSP00000382732.3",
"transcript_support_level": 1,
"aa_start": 133,
"aa_end": null,
"aa_length": 153,
"cds_start": 397,
"cds_end": null,
"cds_length": 462,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399838.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.646G>T",
"hgvs_p": "p.Ala216Ser",
"transcript": "NM_001424409.1",
"protein_id": "NP_001411338.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 236,
"cds_start": 646,
"cds_end": null,
"cds_length": 711,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001424409.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.613G>T",
"hgvs_p": "p.Ala205Ser",
"transcript": "ENST00000900242.1",
"protein_id": "ENSP00000570301.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 225,
"cds_start": 613,
"cds_end": null,
"cds_length": 678,
"cdna_start": 682,
"cdna_end": null,
"cdna_length": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900242.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.562G>T",
"hgvs_p": "p.Ala188Ser",
"transcript": "ENST00000900245.1",
"protein_id": "ENSP00000570304.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 208,
"cds_start": 562,
"cds_end": null,
"cds_length": 627,
"cdna_start": 572,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900245.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.559G>T",
"hgvs_p": "p.Ala187Ser",
"transcript": "ENST00000932182.1",
"protein_id": "ENSP00000602241.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 207,
"cds_start": 559,
"cds_end": null,
"cds_length": 624,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 1103,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932182.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.514G>T",
"hgvs_p": "p.Ala172Ser",
"transcript": "ENST00000900243.1",
"protein_id": "ENSP00000570302.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 192,
"cds_start": 514,
"cds_end": null,
"cds_length": 579,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 1042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900243.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.511G>T",
"hgvs_p": "p.Ala171Ser",
"transcript": "ENST00000900244.1",
"protein_id": "ENSP00000570303.1",
"transcript_support_level": null,
"aa_start": 171,
"aa_end": null,
"aa_length": 191,
"cds_start": 511,
"cds_end": null,
"cds_length": 576,
"cdna_start": 575,
"cdna_end": null,
"cdna_length": 1031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000900244.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.505G>T",
"hgvs_p": "p.Ala169Ser",
"transcript": "ENST00000932185.1",
"protein_id": "ENSP00000602244.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 189,
"cds_start": 505,
"cds_end": null,
"cds_length": 570,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 1007,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932185.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.469G>T",
"hgvs_p": "p.Ala157Ser",
"transcript": "NM_181493.4",
"protein_id": "NP_852470.1",
"transcript_support_level": null,
"aa_start": 157,
"aa_end": null,
"aa_length": 177,
"cds_start": 469,
"cds_end": null,
"cds_length": 534,
"cdna_start": 523,
"cdna_end": null,
"cdna_length": 986,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181493.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.436G>T",
"hgvs_p": "p.Ala146Ser",
"transcript": "ENST00000932186.1",
"protein_id": "ENSP00000602245.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 166,
"cds_start": 436,
"cds_end": null,
"cds_length": 501,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 935,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932186.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.397G>T",
"hgvs_p": "p.Ala133Ser",
"transcript": "NM_001267623.2",
"protein_id": "NP_001254552.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 153,
"cds_start": 397,
"cds_end": null,
"cds_length": 462,
"cdna_start": 451,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001267623.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.391G>T",
"hgvs_p": "p.Ala131Ser",
"transcript": "ENST00000932181.1",
"protein_id": "ENSP00000602240.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 151,
"cds_start": 391,
"cds_end": null,
"cds_length": 456,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 939,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932181.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.346G>T",
"hgvs_p": "p.Ala116Ser",
"transcript": "ENST00000932180.1",
"protein_id": "ENSP00000602239.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 136,
"cds_start": 346,
"cds_end": null,
"cds_length": 411,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1029,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932180.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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": "c.298G>T",
"hgvs_p": "p.Ala100Ser",
"transcript": "ENST00000932184.1",
"protein_id": "ENSP00000602243.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 120,
"cds_start": 298,
"cds_end": null,
"cds_length": 363,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932184.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.175G>T",
"hgvs_p": "p.Ala59Ser",
"transcript": "ENST00000932183.1",
"protein_id": "ENSP00000602242.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 79,
"cds_start": 175,
"cds_end": null,
"cds_length": 240,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 713,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932183.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"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": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.567G>T",
"hgvs_p": "p.Thr189Thr",
"transcript": "NM_001424408.1",
"protein_id": "NP_001411337.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 238,
"cds_start": 567,
"cds_end": null,
"cds_length": 717,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 1084,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001324236.2",
"protein_id": "NP_001311165.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 110,
"cds_start": 183,
"cds_end": null,
"cds_length": 333,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 1040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324236.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"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": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001324237.2",
"protein_id": "NP_001311166.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 110,
"cds_start": 183,
"cds_end": null,
"cds_length": 333,
"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1275,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324237.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITPA",
"gene_hgnc_id": 6176,
"hgvs_c": "c.183G>T",
"hgvs_p": "p.Thr61Thr",
"transcript": "NM_001324238.2",
"protein_id": "NP_001311167.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 110,
"cds_start": 183,
"cds_end": null,
"cds_length": 333,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1278,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324238.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
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}
],
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}