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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: 11-83541830-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83541830&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83541830,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001142699.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Asp657Tyr",
"transcript": "NM_001142699.3",
"protein_id": "NP_001136171.1",
"transcript_support_level": null,
"aa_start": 657,
"aa_end": null,
"aa_length": 975,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376104.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142699.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Asp657Tyr",
"transcript": "ENST00000376104.7",
"protein_id": "ENSP00000365272.2",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 975,
"cds_start": 1969,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001142699.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376104.7"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1654G>T",
"hgvs_p": "p.Asp552Tyr",
"transcript": "ENST00000398309.6",
"protein_id": "ENSP00000381355.2",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 870,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398309.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1654G>T",
"hgvs_p": "p.Asp552Tyr",
"transcript": "ENST00000532653.5",
"protein_id": "ENSP00000435849.1",
"transcript_support_level": 1,
"aa_start": 552,
"aa_end": null,
"aa_length": 852,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532653.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.100G>T",
"hgvs_p": "p.Asp34Tyr",
"transcript": "ENST00000426717.6",
"protein_id": "ENSP00000393049.2",
"transcript_support_level": 1,
"aa_start": 34,
"aa_end": null,
"aa_length": 334,
"cds_start": 100,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000426717.6"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2080G>T",
"hgvs_p": "p.Asp694Tyr",
"transcript": "ENST00000650630.1",
"protein_id": "ENSP00000497771.1",
"transcript_support_level": null,
"aa_start": 694,
"aa_end": null,
"aa_length": 1012,
"cds_start": 2080,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650630.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2005G>T",
"hgvs_p": "p.Asp669Tyr",
"transcript": "NM_001351274.2",
"protein_id": "NP_001338203.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 969,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351274.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2005G>T",
"hgvs_p": "p.Asp669Tyr",
"transcript": "ENST00000706226.1",
"protein_id": "ENSP00000516284.1",
"transcript_support_level": null,
"aa_start": 669,
"aa_end": null,
"aa_length": 969,
"cds_start": 2005,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706226.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2002G>T",
"hgvs_p": "p.Asp668Tyr",
"transcript": "NM_001351275.2",
"protein_id": "NP_001338204.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 968,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351275.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.2002G>T",
"hgvs_p": "p.Asp668Tyr",
"transcript": "ENST00000706233.1",
"protein_id": "ENSP00000516288.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 968,
"cds_start": 2002,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706233.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1771G>T",
"hgvs_p": "p.Asp591Tyr",
"transcript": "NM_001206769.2",
"protein_id": "NP_001193698.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 909,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206769.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1771G>T",
"hgvs_p": "p.Asp591Tyr",
"transcript": "ENST00000280241.12",
"protein_id": "ENSP00000280241.8",
"transcript_support_level": 5,
"aa_start": 591,
"aa_end": null,
"aa_length": 909,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280241.12"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1771G>T",
"hgvs_p": "p.Asp591Tyr",
"transcript": "NM_001377966.1",
"protein_id": "NP_001364895.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 903,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377966.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1771G>T",
"hgvs_p": "p.Asp591Tyr",
"transcript": "NM_001377967.1",
"protein_id": "NP_001364896.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 891,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377967.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1771G>T",
"hgvs_p": "p.Asp591Tyr",
"transcript": "ENST00000706243.1",
"protein_id": "ENSP00000516291.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 891,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706243.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1714G>T",
"hgvs_p": "p.Asp572Tyr",
"transcript": "ENST00000648622.1",
"protein_id": "ENSP00000497475.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 890,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648622.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1714G>T",
"hgvs_p": "p.Asp572Tyr",
"transcript": "ENST00000706267.1",
"protein_id": "ENSP00000516313.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 872,
"cds_start": 1714,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706267.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1711G>T",
"hgvs_p": "p.Asp571Tyr",
"transcript": "NM_001351276.2",
"protein_id": "NP_001338205.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 871,
"cds_start": 1711,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351276.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1654G>T",
"hgvs_p": "p.Asp552Tyr",
"transcript": "NM_001364.3",
"protein_id": "NP_001355.2",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 870,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364.3"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1654G>T",
"hgvs_p": "p.Asp552Tyr",
"transcript": "NM_001377968.1",
"protein_id": "NP_001364897.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 866,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377968.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1654G>T",
"hgvs_p": "p.Asp552Tyr",
"transcript": "ENST00000524982.5",
"protein_id": "ENSP00000432894.1",
"transcript_support_level": 2,
"aa_start": 552,
"aa_end": null,
"aa_length": 866,
"cds_start": 1654,
"cds_end": null,
"cds_length": 2601,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000524982.5"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1615G>T",
"hgvs_p": "p.Asp539Tyr",
"transcript": "NM_001377970.1",
"protein_id": "NP_001364899.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 857,
"cds_start": 1615,
"cds_end": null,
"cds_length": 2574,
"cdna_start": null,
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"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001142699.3",
"gene_symbol": "DLG2",
"hgnc_id": 2901,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1969G>T",
"hgvs_p": "p.Asp657Tyr"
}
],
"clinvar_disease": "DLG2-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "DLG2-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}