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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: 16-89649495-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89649495&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89649495,
"ref": "G",
"alt": "T",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "ENST00000397901.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.108C>A",
"hgvs_p": "p.Ala36Ala",
"transcript": "NM_002768.5",
"protein_id": "NP_002759.2",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 196,
"cds_start": 108,
"cds_end": null,
"cds_length": 591,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "ENST00000397901.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.108C>A",
"hgvs_p": "p.Ala36Ala",
"transcript": "ENST00000397901.8",
"protein_id": "ENSP00000380998.3",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 196,
"cds_start": 108,
"cds_end": null,
"cds_length": 591,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2342,
"mane_select": "NM_002768.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.163C>A",
"hgvs_p": "p.Pro55Thr",
"transcript": "ENST00000675536.1",
"protein_id": "ENSP00000501759.1",
"transcript_support_level": null,
"aa_start": 55,
"aa_end": null,
"aa_length": 265,
"cds_start": 163,
"cds_end": null,
"cds_length": 798,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 2300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.88C>A",
"hgvs_p": "p.Pro30Thr",
"transcript": "NM_001083314.4",
"protein_id": "NP_001076783.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 240,
"cds_start": 88,
"cds_end": null,
"cds_length": 723,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 2322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.-85C>A",
"hgvs_p": null,
"transcript": "ENST00000674799.1",
"protein_id": "ENSP00000502267.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.-85C>A",
"hgvs_p": null,
"transcript": "ENST00000675909.1",
"protein_id": "ENSP00000502022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.88C>A",
"hgvs_p": "p.Pro30Thr",
"transcript": "XM_011523098.2",
"protein_id": "XP_011521400.1",
"transcript_support_level": null,
"aa_start": 30,
"aa_end": null,
"aa_length": 408,
"cds_start": 88,
"cds_end": null,
"cds_length": 1227,
"cdna_start": 208,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.-85C>A",
"hgvs_p": null,
"transcript": "XM_047434195.1",
"protein_id": "XP_047290151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.108C>A",
"hgvs_p": "p.Ala36Ala",
"transcript": "ENST00000535997.7",
"protein_id": "ENSP00000442120.3",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 253,
"cds_start": 108,
"cds_end": null,
"cds_length": 762,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.117C>A",
"hgvs_p": "p.Ala39Ala",
"transcript": "ENST00000676355.1",
"protein_id": "ENSP00000502147.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 199,
"cds_start": 117,
"cds_end": null,
"cds_length": 600,
"cdna_start": 330,
"cdna_end": null,
"cdna_length": 2444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.108C>A",
"hgvs_p": "p.Ala36Ala",
"transcript": "ENST00000550102.5",
"protein_id": "ENSP00000449243.1",
"transcript_support_level": 5,
"aa_start": 36,
"aa_end": null,
"aa_length": 187,
"cds_start": 108,
"cds_end": null,
"cds_length": 564,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 803,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.221C>A",
"hgvs_p": null,
"transcript": "ENST00000547614.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 653,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.45C>A",
"hgvs_p": null,
"transcript": "ENST00000548650.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 566,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.99C>A",
"hgvs_p": null,
"transcript": "ENST00000549139.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.108C>A",
"hgvs_p": null,
"transcript": "ENST00000549328.2",
"protein_id": "ENSP00000447899.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.217C>A",
"hgvs_p": null,
"transcript": "ENST00000550872.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 533,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.195C>A",
"hgvs_p": null,
"transcript": "ENST00000551981.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.108C>A",
"hgvs_p": null,
"transcript": "ENST00000675016.1",
"protein_id": "ENSP00000502282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.104C>A",
"hgvs_p": null,
"transcript": "ENST00000675076.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.108C>A",
"hgvs_p": null,
"transcript": "ENST00000675161.1",
"protein_id": "ENSP00000501615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2429,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.131C>A",
"hgvs_p": null,
"transcript": "ENST00000675309.1",
"protein_id": "ENSP00000502291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2321,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*547C>A",
"hgvs_p": null,
"transcript": "ENST00000675942.1",
"protein_id": "ENSP00000502409.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1334,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
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}
],
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}