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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: 9-123381743-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=123381743&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 123381743,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001352964.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2902C>G",
"hgvs_p": "p.Pro968Ala",
"transcript": "NM_001352964.2",
"protein_id": "NP_001339893.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000394215.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352964.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2902C>G",
"hgvs_p": "p.Pro968Ala",
"transcript": "ENST00000394215.7",
"protein_id": "ENSP00000377763.4",
"transcript_support_level": 5,
"aa_start": 968,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2902,
"cds_end": null,
"cds_length": 3213,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001352964.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394215.7"
},
{
"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": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "n.2711C>G",
"hgvs_p": null,
"transcript": "ENST00000473039.5",
"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": "ENST00000473039.5"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2848C>G",
"hgvs_p": "p.Pro950Ala",
"transcript": "NM_001393654.1",
"protein_id": "NP_001380583.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393654.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2848C>G",
"hgvs_p": "p.Pro950Ala",
"transcript": "ENST00000866226.1",
"protein_id": "ENSP00000536285.1",
"transcript_support_level": null,
"aa_start": 950,
"aa_end": null,
"aa_length": 1052,
"cds_start": 2848,
"cds_end": null,
"cds_length": 3159,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866226.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2767C>G",
"hgvs_p": "p.Pro923Ala",
"transcript": "ENST00000866228.1",
"protein_id": "ENSP00000536287.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866228.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2767C>G",
"hgvs_p": "p.Pro923Ala",
"transcript": "ENST00000937726.1",
"protein_id": "ENSP00000607785.1",
"transcript_support_level": null,
"aa_start": 923,
"aa_end": null,
"aa_length": 1025,
"cds_start": 2767,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937726.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2752C>G",
"hgvs_p": "p.Pro918Ala",
"transcript": "NM_001352965.2",
"protein_id": "NP_001339894.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352965.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2752C>G",
"hgvs_p": "p.Pro918Ala",
"transcript": "NM_001400449.1",
"protein_id": "NP_001387378.1",
"transcript_support_level": null,
"aa_start": 918,
"aa_end": null,
"aa_length": 1020,
"cds_start": 2752,
"cds_end": null,
"cds_length": 3063,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001400449.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2719C>G",
"hgvs_p": "p.Pro907Ala",
"transcript": "NM_020946.2",
"protein_id": "NP_065997.1",
"transcript_support_level": null,
"aa_start": 907,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020946.2"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2719C>G",
"hgvs_p": "p.Pro907Ala",
"transcript": "ENST00000373624.6",
"protein_id": "ENSP00000362727.2",
"transcript_support_level": 5,
"aa_start": 907,
"aa_end": null,
"aa_length": 1009,
"cds_start": 2719,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373624.6"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2662C>G",
"hgvs_p": "p.Pro888Ala",
"transcript": "ENST00000866225.1",
"protein_id": "ENSP00000536284.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 990,
"cds_start": 2662,
"cds_end": null,
"cds_length": 2973,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866225.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2614C>G",
"hgvs_p": "p.Pro872Ala",
"transcript": "ENST00000937728.1",
"protein_id": "ENSP00000607787.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 974,
"cds_start": 2614,
"cds_end": null,
"cds_length": 2925,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937728.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2608C>G",
"hgvs_p": "p.Pro870Ala",
"transcript": "ENST00000866227.1",
"protein_id": "ENSP00000536286.1",
"transcript_support_level": null,
"aa_start": 870,
"aa_end": null,
"aa_length": 972,
"cds_start": 2608,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866227.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2599C>G",
"hgvs_p": "p.Pro867Ala",
"transcript": "ENST00000937724.1",
"protein_id": "ENSP00000607783.1",
"transcript_support_level": null,
"aa_start": 867,
"aa_end": null,
"aa_length": 969,
"cds_start": 2599,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937724.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2593C>G",
"hgvs_p": "p.Pro865Ala",
"transcript": "ENST00000937722.1",
"protein_id": "ENSP00000607781.1",
"transcript_support_level": null,
"aa_start": 865,
"aa_end": null,
"aa_length": 967,
"cds_start": 2593,
"cds_end": null,
"cds_length": 2904,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937722.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2527C>G",
"hgvs_p": "p.Pro843Ala",
"transcript": "ENST00000937727.1",
"protein_id": "ENSP00000607786.1",
"transcript_support_level": null,
"aa_start": 843,
"aa_end": null,
"aa_length": 945,
"cds_start": 2527,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937727.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2485C>G",
"hgvs_p": "p.Pro829Ala",
"transcript": "ENST00000937725.1",
"protein_id": "ENSP00000607784.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 931,
"cds_start": 2485,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937725.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2356C>G",
"hgvs_p": "p.Pro786Ala",
"transcript": "ENST00000937723.1",
"protein_id": "ENSP00000607782.1",
"transcript_support_level": null,
"aa_start": 786,
"aa_end": null,
"aa_length": 888,
"cds_start": 2356,
"cds_end": null,
"cds_length": 2667,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937723.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2956C>G",
"hgvs_p": "p.Pro986Ala",
"transcript": "XM_047423613.1",
"protein_id": "XP_047279569.1",
"transcript_support_level": null,
"aa_start": 986,
"aa_end": null,
"aa_length": 1088,
"cds_start": 2956,
"cds_end": null,
"cds_length": 3267,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047423613.1"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2947C>G",
"hgvs_p": "p.Pro983Ala",
"transcript": "XM_011518882.4",
"protein_id": "XP_011517184.1",
"transcript_support_level": null,
"aa_start": 983,
"aa_end": null,
"aa_length": 1085,
"cds_start": 2947,
"cds_end": null,
"cds_length": 3258,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011518882.4"
},
{
"aa_ref": "P",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DENND1A",
"gene_hgnc_id": 29324,
"hgvs_c": "c.2902C>G",
"hgvs_p": "p.Pro968Ala",
"transcript": "XM_047423614.1",
"protein_id": "XP_047279570.1",
"transcript_support_level": null,
"aa_start": 968,
"aa_end": null,
"aa_length": 1070,
"cds_start": 2902,
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"phenotype_combined": "not specified",
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}
],
"message": null
}