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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: 8-86507007-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=86507007&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 86507007,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_016033.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "NM_016033.3",
"protein_id": "NP_057117.2",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 314,
"cds_start": 235,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000406452.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016033.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000406452.8",
"protein_id": "ENSP00000385927.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 314,
"cds_start": 235,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016033.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406452.8"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000902721.1",
"protein_id": "ENSP00000572780.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 360,
"cds_start": 235,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902721.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.277G>C",
"hgvs_p": "p.Ala93Pro",
"transcript": "ENST00000902719.1",
"protein_id": "ENSP00000572778.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 328,
"cds_start": 277,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902719.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000949087.1",
"protein_id": "ENSP00000619146.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 312,
"cds_start": 235,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949087.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000949088.1",
"protein_id": "ENSP00000619147.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 312,
"cds_start": 235,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949088.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.277G>C",
"hgvs_p": "p.Ala93Pro",
"transcript": "ENST00000902723.1",
"protein_id": "ENSP00000572782.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 298,
"cds_start": 277,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902723.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "NM_001286719.2",
"protein_id": "NP_001273648.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 284,
"cds_start": 235,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286719.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000430676.6",
"protein_id": "ENSP00000409661.2",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 284,
"cds_start": 235,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000430676.6"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "NM_001286707.2",
"protein_id": "NP_001273636.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 271,
"cds_start": 235,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286707.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000519966.5",
"protein_id": "ENSP00000428661.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 271,
"cds_start": 235,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519966.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000902720.1",
"protein_id": "ENSP00000572779.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 266,
"cds_start": 235,
"cds_end": null,
"cds_length": 801,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902720.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000949089.1",
"protein_id": "ENSP00000619148.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 259,
"cds_start": 235,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949089.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.103G>C",
"hgvs_p": "p.Ala35Pro",
"transcript": "NM_001317807.2",
"protein_id": "NP_001304736.1",
"transcript_support_level": null,
"aa_start": 35,
"aa_end": null,
"aa_length": 248,
"cds_start": 103,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317807.2"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.103G>C",
"hgvs_p": "p.Ala35Pro",
"transcript": "ENST00000523911.5",
"protein_id": "ENSP00000429899.1",
"transcript_support_level": 2,
"aa_start": 35,
"aa_end": null,
"aa_length": 248,
"cds_start": 103,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523911.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.70G>C",
"hgvs_p": "p.Ala24Pro",
"transcript": "ENST00000519789.5",
"protein_id": "ENSP00000428897.1",
"transcript_support_level": 3,
"aa_start": 24,
"aa_end": null,
"aa_length": 224,
"cds_start": 70,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519789.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "ENST00000902722.1",
"protein_id": "ENSP00000572781.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 143,
"cds_start": 235,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000902722.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.103G>C",
"hgvs_p": "p.Ala35Pro",
"transcript": "ENST00000521045.1",
"protein_id": "ENSP00000428743.1",
"transcript_support_level": 3,
"aa_start": 35,
"aa_end": null,
"aa_length": 94,
"cds_start": 103,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521045.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.277G>C",
"hgvs_p": "p.Ala93Pro",
"transcript": "XM_011517090.4",
"protein_id": "XP_011515392.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 386,
"cds_start": 277,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517090.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.277G>C",
"hgvs_p": "p.Ala93Pro",
"transcript": "XM_011517091.3",
"protein_id": "XP_011515393.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 384,
"cds_start": 277,
"cds_end": null,
"cds_length": 1155,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011517091.3"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.235G>C",
"hgvs_p": "p.Ala79Pro",
"transcript": "XM_005250944.4",
"protein_id": "XP_005251001.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 383,
"cds_start": 235,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005250944.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RMDN1",
"gene_hgnc_id": 24285,
"hgvs_c": "c.277G>C",
"hgvs_p": "p.Ala93Pro",
"transcript": "XM_047421828.1",
"protein_id": "XP_047277784.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 373,
"cds_start": 277,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421828.1"
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}
],
"message": null
}