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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: 16-3067377-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3067377&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3067377,
"ref": "G",
"alt": "A",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001308078.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "NM_001376923.1",
"protein_id": "NP_001363852.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 188,
"cds_start": 16,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000525643.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001376923.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000525643.7",
"protein_id": "ENSP00000432218.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 188,
"cds_start": 16,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001376923.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000525643.7"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000396890.6",
"protein_id": "ENSP00000380099.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396890.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000325568.9",
"protein_id": "ENSP00000324742.5",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 188,
"cds_start": 16,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000325568.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000531965.5",
"protein_id": "ENSP00000433177.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531965.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000529699.5",
"protein_id": "ENSP00000436937.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 168,
"cds_start": 16,
"cds_end": null,
"cds_length": 507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529699.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000548246.1",
"protein_id": "ENSP00000447979.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 148,
"cds_start": 16,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548246.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000396887.7",
"protein_id": "ENSP00000380096.3",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 131,
"cds_start": 16,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396887.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000531965.5",
"protein_id": "ENSP00000433177.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": null,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531965.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "n.473G>A",
"hgvs_p": null,
"transcript": "ENST00000532086.1",
"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": "ENST00000532086.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "n.93G>A",
"hgvs_p": null,
"transcript": "ENST00000532247.5",
"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": "retained_intron",
"feature": "ENST00000532247.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "NM_001308078.4",
"protein_id": "NP_001295007.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308078.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "NM_001369587.3",
"protein_id": "NP_001356516.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369587.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "NM_001369588.3",
"protein_id": "NP_001356517.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369588.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000534507.5",
"protein_id": "ENSP00000431775.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534507.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000548476.5",
"protein_id": "ENSP00000449483.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000548476.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000878151.1",
"protein_id": "ENSP00000548210.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878151.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000878152.1",
"protein_id": "ENSP00000548211.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878152.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000878157.1",
"protein_id": "ENSP00000548216.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878157.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000878158.1",
"protein_id": "ENSP00000548217.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878158.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000878159.1",
"protein_id": "ENSP00000548218.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 234,
"cds_start": 16,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878159.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IL32",
"gene_hgnc_id": 16830,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Val6Ile",
"transcript": "ENST00000878165.1",
"protein_id": "ENSP00000548224.1",
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"phenotype_combined": "not provided",
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}