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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: 1-203014922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=203014922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 203014922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_138391.6",
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "NM_138391.6",
"protein_id": "NP_612400.3",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 376,
"cds_start": 401,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367242.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138391.6"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000367242.4",
"protein_id": "ENSP00000356211.3",
"transcript_support_level": 1,
"aa_start": 134,
"aa_end": null,
"aa_length": 376,
"cds_start": 401,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_138391.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367242.4"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000881146.1",
"protein_id": "ENSP00000551205.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 396,
"cds_start": 401,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881146.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.434C>T",
"hgvs_p": "p.Pro145Leu",
"transcript": "ENST00000965091.1",
"protein_id": "ENSP00000635150.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 387,
"cds_start": 434,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965091.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000912609.1",
"protein_id": "ENSP00000582668.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 382,
"cds_start": 398,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912609.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000965093.1",
"protein_id": "ENSP00000635152.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 378,
"cds_start": 398,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965093.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001322956.2",
"protein_id": "NP_001309885.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 375,
"cds_start": 398,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322956.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000881137.1",
"protein_id": "ENSP00000551196.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 375,
"cds_start": 398,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881137.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000881144.1",
"protein_id": "ENSP00000551203.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 372,
"cds_start": 401,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881144.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000881141.1",
"protein_id": "ENSP00000551200.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 371,
"cds_start": 398,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881141.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Pro126Leu",
"transcript": "ENST00000881142.1",
"protein_id": "ENSP00000551201.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 368,
"cds_start": 377,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881142.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000912608.1",
"protein_id": "ENSP00000582667.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 368,
"cds_start": 401,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912608.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000881139.1",
"protein_id": "ENSP00000551198.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 357,
"cds_start": 401,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881139.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "ENST00000881143.1",
"protein_id": "ENSP00000551202.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 356,
"cds_start": 398,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881143.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000965092.1",
"protein_id": "ENSP00000635151.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 353,
"cds_start": 401,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965092.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "NM_001322958.2",
"protein_id": "NP_001309887.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 346,
"cds_start": 311,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322958.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.311C>T",
"hgvs_p": "p.Pro104Leu",
"transcript": "ENST00000881140.1",
"protein_id": "ENSP00000551199.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 346,
"cds_start": 311,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881140.1"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "NM_001322959.2",
"protein_id": "NP_001309888.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 345,
"cds_start": 308,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322959.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.308C>T",
"hgvs_p": "p.Pro103Leu",
"transcript": "ENST00000881138.1",
"protein_id": "ENSP00000551197.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 345,
"cds_start": 308,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881138.1"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "NM_001322957.2",
"protein_id": "NP_001309886.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 343,
"cds_start": 401,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322957.2"
},
{
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.398C>T",
"hgvs_p": "p.Pro133Leu",
"transcript": "NM_001322955.2",
"protein_id": "NP_001309884.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 342,
"cds_start": 398,
"cds_end": null,
"cds_length": 1029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322955.2"
},
{
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM183A",
"gene_hgnc_id": 20173,
"hgvs_c": "c.401C>T",
"hgvs_p": "p.Pro134Leu",
"transcript": "ENST00000881145.1",
"protein_id": "ENSP00000551204.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 324,
"cds_start": 401,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_138391.6",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}