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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: 4-2875988-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=2875988&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ADD1",
"hgnc_id": 243,
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001354761.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9948,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.32,
"chr": "4",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.37021368741989136,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 799,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2400,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354761.2",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683351.1",
"protein_coding": true,
"protein_id": "NP_001341690.1",
"strand": true,
"transcript": "NM_001354761.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 799,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4140,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2400,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000683351.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001354761.2",
"protein_coding": true,
"protein_id": "ENSP00000508142.1",
"strand": true,
"transcript": "ENST00000683351.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 662,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4743,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1989,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000355842.7",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348100.3",
"strand": true,
"transcript": "ENST00000355842.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 662,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 93,
"cds_end": null,
"cds_length": 1989,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000398123.6",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381191.2",
"strand": true,
"transcript": "ENST00000398123.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 799,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4181,
"cdna_start": 318,
"cds_end": null,
"cds_length": 2400,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857027.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527086.1",
"strand": true,
"transcript": "ENST00000857027.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 799,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4295,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2400,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948356.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618415.1",
"strand": true,
"transcript": "ENST00000948356.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001354756.2",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341685.1",
"strand": true,
"transcript": "NM_001354756.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4047,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014189.4",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_054908.2",
"strand": true,
"transcript": "NM_014189.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4045,
"cdna_start": 261,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000264758.11",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000264758.6",
"strand": true,
"transcript": "ENST00000264758.11",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 259,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857014.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527073.1",
"strand": true,
"transcript": "ENST00000857014.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 304,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857022.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527081.1",
"strand": true,
"transcript": "ENST00000857022.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4065,
"cdna_start": 292,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857023.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527082.1",
"strand": true,
"transcript": "ENST00000857023.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3623,
"cdna_start": 634,
"cds_end": null,
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"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857028.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527087.1",
"strand": true,
"transcript": "ENST00000857028.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 424,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000857029.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527088.1",
"strand": true,
"transcript": "ENST00000857029.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4095,
"cdna_start": 302,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948354.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618413.1",
"strand": true,
"transcript": "ENST00000948354.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3963,
"cdna_start": 188,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000948363.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618422.1",
"strand": true,
"transcript": "ENST00000948363.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 768,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 432,
"cds_end": null,
"cds_length": 2307,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948364.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618423.1",
"strand": true,
"transcript": "ENST00000948364.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 759,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3953,
"cdna_start": 196,
"cds_end": null,
"cds_length": 2280,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948361.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618420.1",
"strand": true,
"transcript": "ENST00000948361.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 741,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 230,
"cds_end": null,
"cds_length": 2226,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948358.1",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618417.1",
"strand": true,
"transcript": "ENST00000948358.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 737,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3954,
"cdna_start": 274,
"cds_end": null,
"cds_length": 2214,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001119.5",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001110.2",
"strand": true,
"transcript": "NM_001119.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 737,
"aa_ref": "F",
"aa_start": 25,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3969,
"cdna_start": 289,
"cds_end": null,
"cds_length": 2214,
"cds_start": 73,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354754.2",
"gene_hgnc_id": 243,
"gene_symbol": "ADD1",
"hgvs_c": "c.73T>C",
"hgvs_p": "p.Phe25Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341683.1",
"strand": true,
"transcript": "NM_001354754.2",
"transcript_support_level": null
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