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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: 1-30936663-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=30936663&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 30936663,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001020658.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139Trp",
"transcript": "NM_001020658.2",
"protein_id": "NP_001018494.1",
"transcript_support_level": null,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3415,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000426105.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001020658.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3415C>T",
"hgvs_p": "p.Arg1139Trp",
"transcript": "ENST00000426105.7",
"protein_id": "ENSP00000391723.2",
"transcript_support_level": 1,
"aa_start": 1139,
"aa_end": null,
"aa_length": 1188,
"cds_start": 3415,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001020658.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426105.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3523C>T",
"hgvs_p": "p.Arg1175Trp",
"transcript": "ENST00000373741.8",
"protein_id": "ENSP00000362846.4",
"transcript_support_level": 1,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3523,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373741.8"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3409C>T",
"hgvs_p": "p.Arg1137Trp",
"transcript": "ENST00000257075.9",
"protein_id": "ENSP00000257075.5",
"transcript_support_level": 1,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1186,
"cds_start": 3409,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000257075.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3337C>T",
"hgvs_p": "p.Arg1113Trp",
"transcript": "ENST00000440538.6",
"protein_id": "ENSP00000401777.2",
"transcript_support_level": 1,
"aa_start": 1113,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3337,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000440538.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3601C>T",
"hgvs_p": "p.Arg1201Trp",
"transcript": "ENST00000883126.1",
"protein_id": "ENSP00000553185.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3601,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883126.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3502C>T",
"hgvs_p": "p.Arg1168Trp",
"transcript": "ENST00000883151.1",
"protein_id": "ENSP00000553210.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3502,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883151.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3547C>T",
"hgvs_p": "p.Arg1183Trp",
"transcript": "ENST00000963563.1",
"protein_id": "ENSP00000633622.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3547,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963563.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3541C>T",
"hgvs_p": "p.Arg1181Trp",
"transcript": "ENST00000883144.1",
"protein_id": "ENSP00000553203.1",
"transcript_support_level": null,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1230,
"cds_start": 3541,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883144.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3535C>T",
"hgvs_p": "p.Arg1179Trp",
"transcript": "ENST00000883086.1",
"protein_id": "ENSP00000553145.1",
"transcript_support_level": null,
"aa_start": 1179,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3535,
"cds_end": null,
"cds_length": 3687,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883086.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3532C>T",
"hgvs_p": "p.Arg1178Trp",
"transcript": "ENST00000883102.1",
"protein_id": "ENSP00000553161.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883102.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3532C>T",
"hgvs_p": "p.Arg1178Trp",
"transcript": "ENST00000883143.1",
"protein_id": "ENSP00000553202.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883143.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3532C>T",
"hgvs_p": "p.Arg1178Trp",
"transcript": "ENST00000918939.1",
"protein_id": "ENSP00000588998.1",
"transcript_support_level": null,
"aa_start": 1178,
"aa_end": null,
"aa_length": 1227,
"cds_start": 3532,
"cds_end": null,
"cds_length": 3684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918939.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3529C>T",
"hgvs_p": "p.Arg1177Trp",
"transcript": "ENST00000883115.1",
"protein_id": "ENSP00000553174.1",
"transcript_support_level": null,
"aa_start": 1177,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3529,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883115.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3526C>T",
"hgvs_p": "p.Arg1176Trp",
"transcript": "ENST00000883140.1",
"protein_id": "ENSP00000553199.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3526,
"cds_end": null,
"cds_length": 3678,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883140.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3523C>T",
"hgvs_p": "p.Arg1175Trp",
"transcript": "ENST00000918952.1",
"protein_id": "ENSP00000589011.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3523,
"cds_end": null,
"cds_length": 3675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918952.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3505C>T",
"hgvs_p": "p.Arg1169Trp",
"transcript": "ENST00000918946.1",
"protein_id": "ENSP00000589005.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1218,
"cds_start": 3505,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918946.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3496C>T",
"hgvs_p": "p.Arg1166Trp",
"transcript": "ENST00000883157.1",
"protein_id": "ENSP00000553216.1",
"transcript_support_level": null,
"aa_start": 1166,
"aa_end": null,
"aa_length": 1215,
"cds_start": 3496,
"cds_end": null,
"cds_length": 3648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883157.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3490C>T",
"hgvs_p": "p.Arg1164Trp",
"transcript": "ENST00000883111.1",
"protein_id": "ENSP00000553170.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1213,
"cds_start": 3490,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883111.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3487C>T",
"hgvs_p": "p.Arg1163Trp",
"transcript": "ENST00000883092.1",
"protein_id": "ENSP00000553151.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3487,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883092.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3487C>T",
"hgvs_p": "p.Arg1163Trp",
"transcript": "ENST00000918981.1",
"protein_id": "ENSP00000589040.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3487,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918981.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUM1",
"gene_hgnc_id": 14957,
"hgvs_c": "c.3484C>T",
"hgvs_p": "p.Arg1162Trp",
"transcript": "ENST00000883123.1",
"protein_id": "ENSP00000553182.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1211,
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"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
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}