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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: 1-161548424-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=161548424&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 161548424,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001127592.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "NM_000569.8",
"protein_id": "NP_000560.7",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000443193.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000569.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000443193.6",
"protein_id": "ENSP00000392047.2",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000569.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000443193.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289768",
"gene_hgnc_id": null,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"transcript": "ENST00000699402.1",
"protein_id": "ENSP00000514363.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 155,
"cds_start": 313,
"cds_end": null,
"cds_length": 468,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699402.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.628A>G",
"hgvs_p": "p.Ile210Val",
"transcript": "NM_001127592.2",
"protein_id": "NP_001121064.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 358,
"cds_start": 628,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127592.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000946731.1",
"protein_id": "ENSP00000616790.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 279,
"cds_start": 316,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946731.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.631A>G",
"hgvs_p": "p.Ile211Val",
"transcript": "NM_001329122.1",
"protein_id": "NP_001316051.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 273,
"cds_start": 631,
"cds_end": null,
"cds_length": 822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329122.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000699401.1",
"protein_id": "ENSP00000514362.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 269,
"cds_start": 316,
"cds_end": null,
"cds_length": 810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699401.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000699398.1",
"protein_id": "ENSP00000514359.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 262,
"cds_start": 316,
"cds_end": null,
"cds_length": 789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699398.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "NM_001127593.1",
"protein_id": "NP_001121065.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127593.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "NM_001127595.2",
"protein_id": "NP_001121067.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127595.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "NM_001329120.2",
"protein_id": "NP_001316049.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329120.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000367967.8",
"protein_id": "ENSP00000356944.3",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367967.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000436743.7",
"protein_id": "ENSP00000416607.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436743.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000699395.1",
"protein_id": "ENSP00000514356.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699395.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000699396.1",
"protein_id": "ENSP00000514357.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699396.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000699397.1",
"protein_id": "ENSP00000514358.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699397.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Ile106Val",
"transcript": "ENST00000946730.1",
"protein_id": "ENSP00000616789.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 254,
"cds_start": 316,
"cds_end": null,
"cds_length": 765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946730.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"transcript": "NM_001127596.2",
"protein_id": "NP_001121068.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 253,
"cds_start": 313,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127596.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"transcript": "NM_001386450.1",
"protein_id": "NP_001373379.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 253,
"cds_start": 313,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386450.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"transcript": "ENST00000426740.8",
"protein_id": "ENSP00000410180.3",
"transcript_support_level": 3,
"aa_start": 105,
"aa_end": null,
"aa_length": 253,
"cds_start": 313,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426740.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"transcript": "ENST00000699400.1",
"protein_id": "ENSP00000514361.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 253,
"cds_start": 313,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699400.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FCGR3A",
"gene_hgnc_id": 3619,
"hgvs_c": "c.313A>G",
"hgvs_p": "p.Ile105Val",
"transcript": "ENST00000884927.1",
"protein_id": "ENSP00000554986.1",
"transcript_support_level": null,
"aa_start": 105,
"aa_end": null,
"aa_length": 253,
"cds_start": 313,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}