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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: 6-42228410-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=42228410&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 42228410,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001297573.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3574G>A",
"hgvs_p": "p.Val1192Met",
"transcript": "NM_001395490.1",
"protein_id": "NP_001382419.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3574,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695948.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395490.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3574G>A",
"hgvs_p": "p.Val1192Met",
"transcript": "ENST00000695948.1",
"protein_id": "ENSP00000512293.1",
"transcript_support_level": null,
"aa_start": 1192,
"aa_end": null,
"aa_length": 1212,
"cds_start": 3574,
"cds_end": null,
"cds_length": 3639,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395490.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695948.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000541110.5",
"protein_id": "ENSP00000439689.1",
"transcript_support_level": 1,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541110.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3538G>A",
"hgvs_p": "p.Val1180Met",
"transcript": "ENST00000372922.8",
"protein_id": "ENSP00000362013.4",
"transcript_support_level": 1,
"aa_start": 1180,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3538,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372922.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2772G>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"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": "nonsense_mediated_decay",
"feature": "ENST00000372917.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "n.*2772G>A",
"hgvs_p": null,
"transcript": "ENST00000372917.9",
"protein_id": "ENSP00000362008.6",
"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": "nonsense_mediated_decay",
"feature": "ENST00000372917.9"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934154.1",
"protein_id": "ENSP00000604213.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934154.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934164.1",
"protein_id": "ENSP00000604223.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934164.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934166.1",
"protein_id": "ENSP00000604225.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934166.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934174.1",
"protein_id": "ENSP00000604233.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934174.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934177.1",
"protein_id": "ENSP00000604236.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934177.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934179.1",
"protein_id": "ENSP00000604238.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934179.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3634G>A",
"hgvs_p": "p.Val1212Met",
"transcript": "ENST00000934183.1",
"protein_id": "ENSP00000604242.1",
"transcript_support_level": null,
"aa_start": 1212,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3634,
"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": "ENST00000934183.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "NM_001297573.2",
"protein_id": "NP_001284502.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297573.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934155.1",
"protein_id": "ENSP00000604214.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934155.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934156.1",
"protein_id": "ENSP00000604215.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934156.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934158.1",
"protein_id": "ENSP00000604217.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934158.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934160.1",
"protein_id": "ENSP00000604219.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934160.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934161.1",
"protein_id": "ENSP00000604220.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934161.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934162.1",
"protein_id": "ENSP00000604221.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934162.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934165.1",
"protein_id": "ENSP00000604224.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3598,
"cds_end": null,
"cds_length": 3663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934165.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TRERF1",
"gene_hgnc_id": 18273,
"hgvs_c": "c.3598G>A",
"hgvs_p": "p.Val1200Met",
"transcript": "ENST00000934169.1",
"protein_id": "ENSP00000604228.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1220,
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}
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}