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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: 16-16122020-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16122020&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 16122020,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000399410.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3436G>A",
"hgvs_p": "p.Val1146Ile",
"transcript": "NM_004996.4",
"protein_id": "NP_004987.2",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 3572,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "ENST00000399410.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3436G>A",
"hgvs_p": "p.Val1146Ile",
"transcript": "ENST00000399410.8",
"protein_id": "ENSP00000382342.3",
"transcript_support_level": 1,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1531,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4596,
"cdna_start": 3572,
"cdna_end": null,
"cdna_length": 6504,
"mane_select": "NM_004996.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3259G>A",
"hgvs_p": "p.Val1087Ile",
"transcript": "ENST00000572882.3",
"protein_id": "ENSP00000461615.2",
"transcript_support_level": 1,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3259,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 3434,
"cdna_end": null,
"cdna_length": 6387,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3466G>A",
"hgvs_p": "p.Val1156Ile",
"transcript": "ENST00000399408.7",
"protein_id": "ENSP00000382340.4",
"transcript_support_level": 5,
"aa_start": 1156,
"aa_end": null,
"aa_length": 1541,
"cds_start": 3466,
"cds_end": null,
"cds_length": 4626,
"cdna_start": 3641,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3310G>A",
"hgvs_p": "p.Val1104Ile",
"transcript": "NM_019901.2",
"protein_id": "NP_063956.2",
"transcript_support_level": null,
"aa_start": 1104,
"aa_end": null,
"aa_length": 1489,
"cds_start": 3310,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 3446,
"cdna_end": null,
"cdna_length": 6378,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3289G>A",
"hgvs_p": "p.Val1097Ile",
"transcript": "NM_019902.2",
"protein_id": "NP_063957.2",
"transcript_support_level": null,
"aa_start": 1097,
"aa_end": null,
"aa_length": 1482,
"cds_start": 3289,
"cds_end": null,
"cds_length": 4449,
"cdna_start": 3425,
"cdna_end": null,
"cdna_length": 6357,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3268G>A",
"hgvs_p": "p.Val1090Ile",
"transcript": "NM_019898.3",
"protein_id": "NP_063953.2",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1475,
"cds_start": 3268,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 3404,
"cdna_end": null,
"cdna_length": 6336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3259G>A",
"hgvs_p": "p.Val1087Ile",
"transcript": "NM_019862.3",
"protein_id": "NP_063915.2",
"transcript_support_level": null,
"aa_start": 1087,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3259,
"cds_end": null,
"cds_length": 4419,
"cdna_start": 3395,
"cdna_end": null,
"cdna_length": 6327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3436G>A",
"hgvs_p": "p.Val1146Ile",
"transcript": "NM_001438755.1",
"protein_id": "NP_001425684.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1466,
"cds_start": 3436,
"cds_end": null,
"cds_length": 4401,
"cdna_start": 3572,
"cdna_end": null,
"cdna_length": 6309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3163G>A",
"hgvs_p": "p.Val1055Ile",
"transcript": "NM_001438715.1",
"protein_id": "NP_001425644.1",
"transcript_support_level": null,
"aa_start": 1055,
"aa_end": null,
"aa_length": 1440,
"cds_start": 3163,
"cds_end": null,
"cds_length": 4323,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 6231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3091G>A",
"hgvs_p": "p.Val1031Ile",
"transcript": "NM_019899.3",
"protein_id": "NP_063954.2",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1416,
"cds_start": 3091,
"cds_end": null,
"cds_length": 4251,
"cdna_start": 3227,
"cdna_end": null,
"cdna_length": 6159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3025G>A",
"hgvs_p": "p.Val1009Ile",
"transcript": "NM_001438717.1",
"protein_id": "NP_001425646.1",
"transcript_support_level": null,
"aa_start": 1009,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3025,
"cds_end": null,
"cds_length": 4185,
"cdna_start": 3161,
"cdna_end": null,
"cdna_length": 6093,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2974G>A",
"hgvs_p": "p.Val992Ile",
"transcript": "NM_001438718.1",
"protein_id": "NP_001425647.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1377,
"cds_start": 2974,
"cds_end": null,
"cds_length": 4134,
"cdna_start": 3110,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2965G>A",
"hgvs_p": "p.Val989Ile",
"transcript": "NM_001438719.1",
"protein_id": "NP_001425648.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2965,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3101,
"cdna_end": null,
"cdna_length": 6033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2965G>A",
"hgvs_p": "p.Val989Ile",
"transcript": "ENST00000677164.1",
"protein_id": "ENSP00000502873.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1374,
"cds_start": 2965,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3140,
"cdna_end": null,
"cdna_length": 6276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.2944G>A",
"hgvs_p": "p.Val982Ile",
"transcript": "NM_001438720.1",
"protein_id": "NP_001425649.1",
"transcript_support_level": null,
"aa_start": 982,
"aa_end": null,
"aa_length": 1367,
"cds_start": 2944,
"cds_end": null,
"cds_length": 4104,
"cdna_start": 3080,
"cdna_end": null,
"cdna_length": 6012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3595G>A",
"hgvs_p": "p.Val1199Ile",
"transcript": "XM_047434131.1",
"protein_id": "XP_047290087.1",
"transcript_support_level": null,
"aa_start": 1199,
"aa_end": null,
"aa_length": 1584,
"cds_start": 3595,
"cds_end": null,
"cds_length": 4755,
"cdna_start": 4992,
"cdna_end": null,
"cdna_length": 7924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3490G>A",
"hgvs_p": "p.Val1164Ile",
"transcript": "XM_017023237.2",
"protein_id": "XP_016878726.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1549,
"cds_start": 3490,
"cds_end": null,
"cds_length": 4650,
"cdna_start": 3493,
"cdna_end": null,
"cdna_length": 6425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3469G>A",
"hgvs_p": "p.Val1157Ile",
"transcript": "XM_047434132.1",
"protein_id": "XP_047290088.1",
"transcript_support_level": null,
"aa_start": 1157,
"aa_end": null,
"aa_length": 1542,
"cds_start": 3469,
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"cdna_start": 4866,
"cdna_end": null,
"cdna_length": 7798,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3457G>A",
"hgvs_p": "p.Val1153Ile",
"transcript": "XM_047434133.1",
"protein_id": "XP_047290089.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1538,
"cds_start": 3457,
"cds_end": null,
"cds_length": 4617,
"cdna_start": 4854,
"cdna_end": null,
"cdna_length": 7786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3454G>A",
"hgvs_p": "p.Val1152Ile",
"transcript": "XM_047434134.1",
"protein_id": "XP_047290090.1",
"transcript_support_level": null,
"aa_start": 1152,
"aa_end": null,
"aa_length": 1537,
"cds_start": 3454,
"cds_end": null,
"cds_length": 4614,
"cdna_start": 3506,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ABCC1",
"gene_hgnc_id": 51,
"hgvs_c": "c.3448G>A",
"hgvs_p": "p.Val1150Ile",
"transcript": "XM_047434135.1",
"protein_id": "XP_047290091.1",
"transcript_support_level": null,
"aa_start": 1150,
"aa_end": null,
"aa_length": 1535,
"cds_start": 3448,
"cds_end": null,
"cds_length": 4608,
"cdna_start": 4845,
"cdna_end": null,
"cdna_length": 7777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
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"phenotype_combined": "not provided",
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}
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}