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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: 6-135433193-A-AAC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135433193&ref=A&alt=AAC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135433193,
"ref": "A",
"alt": "AAC",
"effect": "frameshift_variant",
"transcript": "NM_017651.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "NM_001134831.2",
"protein_id": "NP_001128303.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265602.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134831.2"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000265602.11",
"protein_id": "ENSP00000265602.6",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001134831.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265602.11"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000367800.8",
"protein_id": "ENSP00000356774.4",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367800.8"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000457866.6",
"protein_id": "ENSP00000388650.2",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457866.6"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000327035.10",
"protein_id": "ENSP00000322478.6",
"transcript_support_level": 1,
"aa_start": 700,
"aa_end": null,
"aa_length": 1053,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327035.10"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.1150_1151dupGT",
"hgvs_p": "p.Tyr385fs",
"transcript": "ENST00000367799.7",
"protein_id": "ENSP00000356773.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 845,
"cds_start": 1151,
"cds_end": null,
"cds_length": 2538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367799.7"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "NM_001134830.2",
"protein_id": "NP_001128302.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001134830.2"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "NM_001350503.2",
"protein_id": "NP_001337432.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350503.2"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "NM_017651.5",
"protein_id": "NP_060121.3",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_017651.5"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681022.1",
"protein_id": "ENSP00000505121.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681022.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681340.1",
"protein_id": "ENSP00000505666.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681340.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681365.1",
"protein_id": "ENSP00000506604.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681365.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681522.1",
"protein_id": "ENSP00000506005.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681522.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681841.1",
"protein_id": "ENSP00000504965.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681841.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000941465.1",
"protein_id": "ENSP00000611524.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1196,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941465.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000913496.1",
"protein_id": "ENSP00000583555.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1195,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913496.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681670.1",
"protein_id": "ENSP00000504895.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1186,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681670.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "NM_001350504.2",
"protein_id": "NP_001337433.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350504.2"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000679925.1",
"protein_id": "ENSP00000505502.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1168,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3507,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679925.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000681756.1",
"protein_id": "ENSP00000506505.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
"aa_length": 1154,
"cds_start": 2099,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681756.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.1945_1946dupGT",
"hgvs_p": "p.Tyr650fs",
"transcript": "ENST00000681301.1",
"protein_id": "ENSP00000505093.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1145,
"cds_start": 1946,
"cds_end": null,
"cds_length": 3438,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681301.1"
},
{
"aa_ref": "V",
"aa_alt": "V?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AHI1",
"gene_hgnc_id": 21575,
"hgvs_c": "c.2098_2099dupGT",
"hgvs_p": "p.Tyr701fs",
"transcript": "ENST00000679450.1",
"protein_id": "ENSP00000506494.1",
"transcript_support_level": null,
"aa_start": 700,
"aa_end": null,
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],
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{
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"verdict": "Pathogenic",
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],
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],
"clinvar_disease": "Joubert syndrome,Joubert syndrome 3,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Joubert syndrome 3|not provided|Joubert syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}