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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: 1-43273014-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=43273014&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 43273014,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144626.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "NM_144626.3",
"protein_id": "NP_653227.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000439858.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144626.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000439858.6",
"protein_id": "ENSP00000429775.1",
"transcript_support_level": 2,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144626.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000439858.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000432792.6",
"protein_id": "ENSP00000429275.1",
"transcript_support_level": 1,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432792.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "NM_001320244.2",
"protein_id": "NP_001307173.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320244.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908432.1",
"protein_id": "ENSP00000578491.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908432.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908433.1",
"protein_id": "ENSP00000578492.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908433.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908434.1",
"protein_id": "ENSP00000578493.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908434.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908435.1",
"protein_id": "ENSP00000578494.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908435.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908436.1",
"protein_id": "ENSP00000578495.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908436.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908437.1",
"protein_id": "ENSP00000578496.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908437.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908438.1",
"protein_id": "ENSP00000578497.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908438.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908439.1",
"protein_id": "ENSP00000578498.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908439.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908440.1",
"protein_id": "ENSP00000578499.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908440.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908441.1",
"protein_id": "ENSP00000578500.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908441.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908442.1",
"protein_id": "ENSP00000578501.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908442.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908443.1",
"protein_id": "ENSP00000578502.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908443.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908444.1",
"protein_id": "ENSP00000578503.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908444.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908445.1",
"protein_id": "ENSP00000578504.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908445.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908446.1",
"protein_id": "ENSP00000578505.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908446.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908447.1",
"protein_id": "ENSP00000578506.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908447.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908448.1",
"protein_id": "ENSP00000578507.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908448.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM125",
"gene_hgnc_id": 28275,
"hgvs_c": "c.292C>T",
"hgvs_p": "p.Arg98Cys",
"transcript": "ENST00000908449.1",
"protein_id": "ENSP00000578508.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 219,
"cds_start": 292,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000908449.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}