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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: 5-80436812-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=80436812&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 80436812,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014733.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "NM_001284236.3",
"protein_id": "NP_001271165.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000505560.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284236.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000505560.5",
"protein_id": "ENSP00000426848.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284236.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505560.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000338008.9",
"protein_id": "ENSP00000337159.5",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338008.9"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000510158.5",
"protein_id": "ENSP00000423663.1",
"transcript_support_level": 1,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510158.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "n.237G>A",
"hgvs_p": null,
"transcript": "ENST00000510995.1",
"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": "retained_intron",
"feature": "ENST00000510995.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000967669.1",
"protein_id": "ENSP00000637728.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1543,
"cds_start": 127,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967669.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "NM_001105251.4",
"protein_id": "NP_001098721.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105251.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "NM_001349434.2",
"protein_id": "NP_001336363.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349434.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "NM_014733.6",
"protein_id": "NP_055548.4",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014733.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000868097.1",
"protein_id": "ENSP00000538156.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868097.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000868098.1",
"protein_id": "ENSP00000538157.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868098.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000967667.1",
"protein_id": "ENSP00000637726.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967667.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000967668.1",
"protein_id": "ENSP00000637727.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967668.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000967671.1",
"protein_id": "ENSP00000637730.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967671.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000967670.1",
"protein_id": "ENSP00000637729.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1516,
"cds_start": 127,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967670.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "ENST00000868099.1",
"protein_id": "ENSP00000538158.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1504,
"cds_start": 127,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868099.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "NM_001284237.2",
"protein_id": "NP_001271166.2",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 809,
"cds_start": 127,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284237.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "XM_005248632.5",
"protein_id": "XP_005248689.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248632.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "XM_017010091.2",
"protein_id": "XP_016865580.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010091.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "XM_017010092.3",
"protein_id": "XP_016865581.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010092.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "XM_024446270.2",
"protein_id": "XP_024302038.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024446270.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZFYVE16",
"gene_hgnc_id": 20756,
"hgvs_c": "c.127G>A",
"hgvs_p": "p.Val43Ile",
"transcript": "XM_047417941.1",
"protein_id": "XP_047273897.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 1539,
"cds_start": 127,
"cds_end": null,
"cds_length": 4620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}