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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: 22-42693169-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=42693169&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 42693169,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_017436.7",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "NM_017436.7",
"protein_id": "NP_059132.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000642412.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017436.7"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000642412.2",
"protein_id": "ENSP00000494127.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_017436.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642412.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000249005.3",
"protein_id": "ENSP00000249005.2",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000249005.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000401850.5",
"protein_id": "ENSP00000384794.1",
"transcript_support_level": 1,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401850.5"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "NM_001318038.3",
"protein_id": "NP_001304967.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318038.3"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000381278.4",
"protein_id": "ENSP00000370678.3",
"transcript_support_level": 5,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381278.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868257.1",
"protein_id": "ENSP00000538316.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868257.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868258.1",
"protein_id": "ENSP00000538317.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868258.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868259.1",
"protein_id": "ENSP00000538318.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868259.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868260.1",
"protein_id": "ENSP00000538319.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868260.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868261.1",
"protein_id": "ENSP00000538320.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868261.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868262.1",
"protein_id": "ENSP00000538321.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868262.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868263.1",
"protein_id": "ENSP00000538322.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868263.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868264.1",
"protein_id": "ENSP00000538323.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868264.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868265.1",
"protein_id": "ENSP00000538324.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868265.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868266.1",
"protein_id": "ENSP00000538325.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868266.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868267.1",
"protein_id": "ENSP00000538326.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868267.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868268.1",
"protein_id": "ENSP00000538327.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868268.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868269.1",
"protein_id": "ENSP00000538328.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868269.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868270.1",
"protein_id": "ENSP00000538329.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868270.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868271.1",
"protein_id": "ENSP00000538330.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868271.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "A4GALT",
"gene_hgnc_id": 18149,
"hgvs_c": "c.783G>C",
"hgvs_p": "p.Trp261Cys",
"transcript": "ENST00000868272.1",
"protein_id": "ENSP00000538331.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 353,
"cds_start": 783,
"cds_end": null,
"cds_length": 1062,
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