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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: 12-77831636-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=77831636&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 77831636,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001024383.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "NM_001024383.2",
"protein_id": "NP_001019554.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2385,
"cds_start": 175,
"cds_end": null,
"cds_length": 7158,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10219,
"mane_select": "ENST00000397909.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "ENST00000397909.7",
"protein_id": "ENSP00000381007.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 2385,
"cds_start": 175,
"cds_end": null,
"cds_length": 7158,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10219,
"mane_select": "NM_001024383.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "ENST00000536525.6",
"protein_id": "ENSP00000446132.2",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 2363,
"cds_start": 175,
"cds_end": null,
"cds_length": 7092,
"cdna_start": 348,
"cdna_end": null,
"cdna_length": 7386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "NM_014903.6",
"protein_id": "NP_055718.4",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2363,
"cds_start": 175,
"cds_end": null,
"cds_length": 7092,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10153,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "ENST00000549464.5",
"protein_id": "ENSP00000446628.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 678,
"cds_start": 175,
"cds_end": null,
"cds_length": 2038,
"cdna_start": 732,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_017020164.3",
"protein_id": "XP_016875653.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2378,
"cds_start": 175,
"cds_end": null,
"cds_length": 7137,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_017020165.2",
"protein_id": "XP_016875654.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2364,
"cds_start": 175,
"cds_end": null,
"cds_length": 7095,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_005269215.5",
"protein_id": "XP_005269272.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2356,
"cds_start": 175,
"cds_end": null,
"cds_length": 7071,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429812.1",
"protein_id": "XP_047285768.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2355,
"cds_start": 175,
"cds_end": null,
"cds_length": 7068,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10129,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_011538940.3",
"protein_id": "XP_011537242.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2349,
"cds_start": 175,
"cds_end": null,
"cds_length": 7050,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_011538941.3",
"protein_id": "XP_011537243.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2342,
"cds_start": 175,
"cds_end": null,
"cds_length": 7029,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 10090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429813.1",
"protein_id": "XP_047285769.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2340,
"cds_start": 175,
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"cds_length": 7023,
"cdna_start": 743,
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"cdna_length": 10084,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429814.1",
"protein_id": "XP_047285770.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 2333,
"cds_start": 175,
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"cds_length": 7002,
"cdna_start": 743,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
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"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429815.1",
"protein_id": "XP_047285771.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429816.1",
"protein_id": "XP_047285772.1",
"transcript_support_level": null,
"aa_start": 59,
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"cds_start": 175,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
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"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_017020168.2",
"protein_id": "XP_016875657.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"exon_count": 38,
"intron_rank": null,
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"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_017020169.3",
"protein_id": "XP_016875658.1",
"transcript_support_level": null,
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"cdna_start": 743,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429820.1",
"protein_id": "XP_047285776.1",
"transcript_support_level": null,
"aa_start": 59,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "NAV3",
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"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_011538944.4",
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},
{
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"protein_coding": true,
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"consequences": [
"missense_variant"
],
"exon_rank": 1,
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"exon_count": 36,
"intron_rank": null,
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"gene_symbol": "NAV3",
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"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_017020170.2",
"protein_id": "XP_016875659.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": 1,
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"intron_rank": null,
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"gene_symbol": "NAV3",
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"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429822.1",
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
"hgvs_c": "c.175A>C",
"hgvs_p": "p.Lys59Gln",
"transcript": "XM_047429824.1",
"protein_id": "XP_047285780.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
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"cdna_start": 743,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAV3",
"gene_hgnc_id": 15998,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.4,
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"phylop100way_prediction": "Benign",
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{
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
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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
}