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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: 3-42636891-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=42636891&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 42636891,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001349124.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "NM_005385.4",
"protein_id": "NP_005376.2",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000232978.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005385.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000232978.13",
"protein_id": "ENSP00000232978.8",
"transcript_support_level": 1,
"aa_start": 396,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005385.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000232978.13"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "NM_001349124.2",
"protein_id": "NP_001336053.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349124.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000937553.1",
"protein_id": "ENSP00000607612.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937553.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000970640.1",
"protein_id": "ENSP00000640699.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970640.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "ENST00000937557.1",
"protein_id": "ENSP00000607616.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1462,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4389,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937557.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1157G>A",
"hgvs_p": "p.Arg386Gln",
"transcript": "ENST00000937556.1",
"protein_id": "ENSP00000607615.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 1452,
"cds_start": 1157,
"cds_end": null,
"cds_length": 4359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937556.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Arg385Gln",
"transcript": "ENST00000937555.1",
"protein_id": "ENSP00000607614.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 1451,
"cds_start": 1154,
"cds_end": null,
"cds_length": 4356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937555.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1097G>A",
"hgvs_p": "p.Arg366Gln",
"transcript": "ENST00000937554.1",
"protein_id": "ENSP00000607613.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 1432,
"cds_start": 1097,
"cds_end": null,
"cds_length": 4299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937554.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "NM_001349125.2",
"protein_id": "NP_001336054.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1210,
"cds_start": 428,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349125.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.83G>A",
"hgvs_p": "p.Arg28Gln",
"transcript": "NM_001349126.2",
"protein_id": "NP_001336055.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 1094,
"cds_start": 83,
"cds_end": null,
"cds_length": 3285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349126.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "XM_024453539.2",
"protein_id": "XP_024309307.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1463,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453539.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "XM_006713171.3",
"protein_id": "XP_006713234.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1436,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006713171.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Arg396Gln",
"transcript": "XM_017006474.3",
"protein_id": "XP_016861963.1",
"transcript_support_level": null,
"aa_start": 396,
"aa_end": null,
"aa_length": 1435,
"cds_start": 1187,
"cds_end": null,
"cds_length": 4308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006474.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "XM_047448192.1",
"protein_id": "XP_047304148.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 1353,
"cds_start": 857,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448192.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "XM_047448193.1",
"protein_id": "XP_047304149.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 1353,
"cds_start": 857,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448193.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.857G>A",
"hgvs_p": "p.Arg286Gln",
"transcript": "XM_047448194.1",
"protein_id": "XP_047304150.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 1353,
"cds_start": 857,
"cds_end": null,
"cds_length": 4062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448194.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.428G>A",
"hgvs_p": "p.Arg143Gln",
"transcript": "XM_047448195.1",
"protein_id": "XP_047304151.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 1210,
"cds_start": 428,
"cds_end": null,
"cds_length": 3633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448195.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.773+4068G>A",
"hgvs_p": null,
"transcript": "ENST00000970641.1",
"protein_id": "ENSP00000640700.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"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": "ENST00000970641.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "c.773+4068G>A",
"hgvs_p": null,
"transcript": "ENST00000970642.1",
"protein_id": "ENSP00000640701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 286,
"cds_start": null,
"cds_end": null,
"cds_length": 861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970642.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "n.*925G>A",
"hgvs_p": null,
"transcript": "ENST00000429888.5",
"protein_id": "ENSP00000404802.1",
"transcript_support_level": 5,
"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": "ENST00000429888.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NKTR",
"gene_hgnc_id": 7833,
"hgvs_c": "n.785G>A",
"hgvs_p": null,
"transcript": "ENST00000460807.2",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000460807.2"
},
{
"aa_ref": null,
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"canonical": false,
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"bayesdelnoaf_score": -0.38,
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{
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "",
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{
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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
}