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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: 19-39370087-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=39370087&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 39370087,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018028.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384574.2",
"protein_id": "NP_001371503.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000610417.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384574.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000610417.5",
"protein_id": "ENSP00000484229.1",
"transcript_support_level": 2,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001384574.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000610417.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000314471.10",
"protein_id": "ENSP00000317224.5",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000314471.10"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000598913.5",
"protein_id": "ENSP00000470237.1",
"transcript_support_level": 1,
"aa_start": 210,
"aa_end": null,
"aa_length": 692,
"cds_start": 629,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598913.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000596368.1",
"protein_id": "ENSP00000471509.1",
"transcript_support_level": 5,
"aa_start": 210,
"aa_end": null,
"aa_length": 325,
"cds_start": 629,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000596368.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384565.1",
"protein_id": "NP_001371494.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384565.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384566.1",
"protein_id": "NP_001371495.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384566.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384568.1",
"protein_id": "NP_001371497.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384568.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384569.1",
"protein_id": "NP_001371498.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384569.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384570.1",
"protein_id": "NP_001371499.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384570.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384571.1",
"protein_id": "NP_001371500.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384571.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384573.1",
"protein_id": "NP_001371502.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384573.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384575.1",
"protein_id": "NP_001371504.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384575.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384576.1",
"protein_id": "NP_001371505.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384576.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384577.1",
"protein_id": "NP_001371506.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384577.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_001384578.1",
"protein_id": "NP_001371507.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001384578.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "NM_018028.4",
"protein_id": "NP_060498.2",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018028.4"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000863006.1",
"protein_id": "ENSP00000533065.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863006.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000863007.1",
"protein_id": "ENSP00000533066.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863007.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000863008.1",
"protein_id": "ENSP00000533067.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863008.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000863009.1",
"protein_id": "ENSP00000533068.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 694,
"cds_start": 629,
"cds_end": null,
"cds_length": 2085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863009.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SAMD4B",
"gene_hgnc_id": 25492,
"hgvs_c": "c.629C>T",
"hgvs_p": "p.Pro210Leu",
"transcript": "ENST00000936211.1",
"protein_id": "ENSP00000606270.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}