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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: 9-33385742-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=33385742&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 33385742,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000297988.6",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "NM_001170.3",
"protein_id": "NP_001161.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 342,
"cds_start": 650,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "ENST00000297988.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "ENST00000297988.6",
"protein_id": "ENSP00000297988.1",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 342,
"cds_start": 650,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "NM_001170.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.479T>A",
"hgvs_p": "p.Leu160His",
"transcript": "ENST00000377425.8",
"protein_id": "ENSP00000396111.2",
"transcript_support_level": 1,
"aa_start": 160,
"aa_end": null,
"aa_length": 216,
"cds_start": 479,
"cds_end": null,
"cds_length": 651,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 1068,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*370T>A",
"hgvs_p": null,
"transcript": "ENST00000537089.5",
"protein_id": "ENSP00000441619.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.358T>A",
"hgvs_p": null,
"transcript": "ENST00000623097.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*419T>A",
"hgvs_p": null,
"transcript": "ENST00000624095.1",
"protein_id": "ENSP00000485419.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*370T>A",
"hgvs_p": null,
"transcript": "ENST00000537089.5",
"protein_id": "ENSP00000441619.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1668,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*419T>A",
"hgvs_p": null,
"transcript": "ENST00000624095.1",
"protein_id": "ENSP00000485419.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "NM_001376191.1",
"protein_id": "NP_001363120.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 342,
"cds_start": 650,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 3201,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.647T>A",
"hgvs_p": "p.Leu216His",
"transcript": "ENST00000379507.7",
"protein_id": "ENSP00000368821.3",
"transcript_support_level": 5,
"aa_start": 216,
"aa_end": null,
"aa_length": 341,
"cds_start": 647,
"cds_end": null,
"cds_length": 1026,
"cdna_start": 674,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "NM_001376192.1",
"protein_id": "NP_001363121.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 273,
"cds_start": 650,
"cds_end": null,
"cds_length": 822,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "NM_001376193.1",
"protein_id": "NP_001363122.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 273,
"cds_start": 650,
"cds_end": null,
"cds_length": 822,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "NM_001318158.2",
"protein_id": "NP_001305087.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 257,
"cds_start": 650,
"cds_end": null,
"cds_length": 774,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.650T>A",
"hgvs_p": "p.Leu217His",
"transcript": "ENST00000624075.3",
"protein_id": "ENSP00000485332.1",
"transcript_support_level": 2,
"aa_start": 217,
"aa_end": null,
"aa_length": 257,
"cds_start": 650,
"cds_end": null,
"cds_length": 774,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 1270,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.647T>A",
"hgvs_p": "p.Leu216His",
"transcript": "NM_001318157.2",
"protein_id": "NP_001305086.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 256,
"cds_start": 647,
"cds_end": null,
"cds_length": 771,
"cdna_start": 1189,
"cdna_end": null,
"cdna_length": 1981,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.647T>A",
"hgvs_p": "p.Leu216His",
"transcript": "ENST00000379506.7",
"protein_id": "ENSP00000368820.3",
"transcript_support_level": 2,
"aa_start": 216,
"aa_end": null,
"aa_length": 256,
"cds_start": 647,
"cds_end": null,
"cds_length": 771,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 1062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.479T>A",
"hgvs_p": "p.Leu160His",
"transcript": "NM_001318156.2",
"protein_id": "NP_001305085.1",
"transcript_support_level": null,
"aa_start": 160,
"aa_end": null,
"aa_length": 216,
"cds_start": 479,
"cds_end": null,
"cds_length": 651,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.374T>A",
"hgvs_p": "p.Leu125His",
"transcript": "ENST00000439678.5",
"protein_id": "ENSP00000410138.1",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 168,
"cds_start": 374,
"cds_end": null,
"cds_length": 509,
"cdna_start": 540,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "c.374T>A",
"hgvs_p": "p.Leu125His",
"transcript": "ENST00000447660.3",
"protein_id": "ENSP00000412868.2",
"transcript_support_level": 2,
"aa_start": 125,
"aa_end": null,
"aa_length": 165,
"cds_start": 374,
"cds_end": null,
"cds_length": 498,
"cdna_start": 762,
"cdna_end": null,
"cdna_length": 998,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.500T>A",
"hgvs_p": null,
"transcript": "ENST00000379503.7",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*251T>A",
"hgvs_p": null,
"transcript": "ENST00000624005.3",
"protein_id": "ENSP00000485224.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*419T>A",
"hgvs_p": null,
"transcript": "ENST00000624420.3",
"protein_id": "ENSP00000485348.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AQP7",
"gene_hgnc_id": 640,
"hgvs_c": "n.*842T>A",
"hgvs_p": null,
"transcript": "ENST00000624890.3",
"protein_id": "ENSP00000485131.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
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}
],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.474,
"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": 0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Pathogenic",
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{
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"BP6_Moderate"
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"verdict": "Likely_benign",
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"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}