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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: 7-120788776-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=120788776&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TSPAN12",
"hgnc_id": 21641,
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"inheritance_mode": "AD,SD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_012338.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.9861,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Exudative vitreoretinopathy 5,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.850978672504425,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_012338.4",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000222747.8",
"protein_coding": true,
"protein_id": "NP_036470.1",
"strand": false,
"transcript": "NM_012338.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000222747.8",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012338.4",
"protein_coding": true,
"protein_id": "ENSP00000222747.3",
"strand": false,
"transcript": "ENST00000222747.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1495,
"cdna_start": 1093,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000415871.5",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397699.1",
"strand": false,
"transcript": "ENST00000415871.5",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2502,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000854320.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524379.1",
"strand": false,
"transcript": "ENST00000854320.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2311,
"cdna_start": 855,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854325.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524384.1",
"strand": false,
"transcript": "ENST00000854325.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3060,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854326.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524385.1",
"strand": false,
"transcript": "ENST00000854326.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 979,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968603.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638662.1",
"strand": false,
"transcript": "ENST00000968603.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2419,
"cdna_start": 964,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968604.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638663.1",
"strand": false,
"transcript": "ENST00000968604.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 303,
"aa_ref": "L",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2504,
"cdna_start": 1051,
"cds_end": null,
"cds_length": 912,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000968602.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.728T>C",
"hgvs_p": "p.Leu243Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638661.1",
"strand": false,
"transcript": "ENST00000968602.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 280,
"aa_ref": "L",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2457,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 843,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854322.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524381.1",
"strand": false,
"transcript": "ENST00000854322.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 280,
"aa_ref": "L",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2450,
"cdna_start": 994,
"cds_end": null,
"cds_length": 843,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854324.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524383.1",
"strand": false,
"transcript": "ENST00000854324.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 280,
"aa_ref": "L",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2308,
"cdna_start": 852,
"cds_end": null,
"cds_length": 843,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918672.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588731.1",
"strand": false,
"transcript": "ENST00000918672.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 280,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1171,
"cdna_start": 834,
"cds_end": null,
"cds_length": 843,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000968605.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.659T>C",
"hgvs_p": "p.Leu220Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638664.1",
"strand": false,
"transcript": "ENST00000968605.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 257,
"aa_ref": "L",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": 975,
"cds_end": null,
"cds_length": 774,
"cds_start": 590,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918669.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.590T>C",
"hgvs_p": "p.Leu197Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588728.1",
"strand": false,
"transcript": "ENST00000918669.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 232,
"aa_ref": "L",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 881,
"cds_end": null,
"cds_length": 699,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854319.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Leu172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524378.1",
"strand": false,
"transcript": "ENST00000854319.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 232,
"aa_ref": "L",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 830,
"cds_end": null,
"cds_length": 699,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854321.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Leu172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524380.1",
"strand": false,
"transcript": "ENST00000854321.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 232,
"aa_ref": "L",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 895,
"cds_end": null,
"cds_length": 699,
"cds_start": 515,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854323.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.515T>C",
"hgvs_p": "p.Leu172Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524382.1",
"strand": false,
"transcript": "ENST00000854323.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 207,
"aa_ref": "L",
"aa_start": 147,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 794,
"cds_end": null,
"cds_length": 624,
"cds_start": 440,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000918670.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.440T>C",
"hgvs_p": "p.Leu147Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588729.1",
"strand": false,
"transcript": "ENST00000918670.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 123,
"aa_ref": "L",
"aa_start": 63,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 522,
"cds_end": null,
"cds_length": 372,
"cds_start": 188,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918671.1",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.188T>C",
"hgvs_p": "p.Leu63Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588730.1",
"strand": false,
"transcript": "ENST00000918671.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2531,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_005250239.4",
"gene_hgnc_id": 21641,
"gene_symbol": "TSPAN12",
"hgvs_c": "c.734T>C",
"hgvs_p": "p.Leu245Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005250296.1",
"strand": false,
"transcript": "XM_005250239.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 305,
"aa_ref": "L",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1105,
"cds_end": null,
"cds_length": 918,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047420095.1",
"gene_hgnc_id": 21641,
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}