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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: 9-81590881-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=81590881&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TLE1",
"hgnc_id": 11837,
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Asp595Asn",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001303103.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 5,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.6684,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "9",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7633885145187378,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 770,
"aa_ref": "D",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_005077.5",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Asp585Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000376499.8",
"protein_coding": true,
"protein_id": "NP_005068.2",
"strand": false,
"transcript": "NM_005077.5",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 770,
"aa_ref": "D",
"aa_start": 585,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4135,
"cdna_start": 3060,
"cds_end": null,
"cds_length": 2313,
"cds_start": 1753,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000376499.8",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1753G>A",
"hgvs_p": "p.Asp585Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005077.5",
"protein_coding": true,
"protein_id": "ENSP00000365682.3",
"strand": false,
"transcript": "ENST00000376499.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 815,
"aa_ref": "D",
"aa_start": 630,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3806,
"cdna_start": 3172,
"cds_end": null,
"cds_length": 2448,
"cds_start": 1888,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946444.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1888G>A",
"hgvs_p": "p.Asp630Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616503.1",
"strand": false,
"transcript": "ENST00000946444.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 804,
"aa_ref": "D",
"aa_start": 619,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4336,
"cdna_start": 3261,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1855,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946428.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1855G>A",
"hgvs_p": "p.Asp619Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616487.1",
"strand": false,
"transcript": "ENST00000946428.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 803,
"aa_ref": "D",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4313,
"cdna_start": 3240,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946430.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Asp618Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616489.1",
"strand": false,
"transcript": "ENST00000946430.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 803,
"aa_ref": "D",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4217,
"cdna_start": 3145,
"cds_end": null,
"cds_length": 2412,
"cds_start": 1852,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946435.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1852G>A",
"hgvs_p": "p.Asp618Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616494.1",
"strand": false,
"transcript": "ENST00000946435.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 802,
"aa_ref": "D",
"aa_start": 617,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 3133,
"cds_end": null,
"cds_length": 2409,
"cds_start": 1849,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946437.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1849G>A",
"hgvs_p": "p.Asp617Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616496.1",
"strand": false,
"transcript": "ENST00000946437.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 789,
"aa_ref": "D",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 3117,
"cds_end": null,
"cds_length": 2370,
"cds_start": 1810,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000946433.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1810G>A",
"hgvs_p": "p.Asp604Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616492.1",
"strand": false,
"transcript": "ENST00000946433.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 780,
"aa_ref": "D",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4165,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 2343,
"cds_start": 1783,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001303103.2",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1783G>A",
"hgvs_p": "p.Asp595Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290032.1",
"strand": false,
"transcript": "NM_001303103.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 779,
"aa_ref": "D",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3758,
"cdna_start": 3122,
"cds_end": null,
"cds_length": 2340,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946443.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1780G>A",
"hgvs_p": "p.Asp594Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616502.1",
"strand": false,
"transcript": "ENST00000946443.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 778,
"aa_ref": "D",
"aa_start": 593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4005,
"cdna_start": 2934,
"cds_end": null,
"cds_length": 2337,
"cds_start": 1777,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946442.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1777G>A",
"hgvs_p": "p.Asp593Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616501.1",
"strand": false,
"transcript": "ENST00000946442.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5636,
"cdna_start": 3191,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1750,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946426.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Asp584Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616485.1",
"strand": false,
"transcript": "ENST00000946426.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 769,
"aa_ref": "D",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4231,
"cdna_start": 3156,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1750,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946429.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Asp584Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616488.1",
"strand": false,
"transcript": "ENST00000946429.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 768,
"aa_ref": "D",
"aa_start": 583,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4096,
"cdna_start": 3026,
"cds_end": null,
"cds_length": 2307,
"cds_start": 1747,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946438.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1747G>A",
"hgvs_p": "p.Asp583Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616497.1",
"strand": false,
"transcript": "ENST00000946438.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 757,
"aa_ref": "D",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4093,
"cdna_start": 3020,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1714,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946432.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1714G>A",
"hgvs_p": "p.Asp572Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616491.1",
"strand": false,
"transcript": "ENST00000946432.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 755,
"aa_ref": "D",
"aa_start": 570,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4090,
"cdna_start": 3015,
"cds_end": null,
"cds_length": 2268,
"cds_start": 1708,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001303104.2",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Asp570Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290033.1",
"strand": false,
"transcript": "NM_001303104.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 754,
"aa_ref": "D",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 2992,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1705,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000946436.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1705G>A",
"hgvs_p": "p.Asp569Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616495.1",
"strand": false,
"transcript": "ENST00000946436.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 749,
"aa_ref": "D",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 2996,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1690,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000946434.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1690G>A",
"hgvs_p": "p.Asp564Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616493.1",
"strand": false,
"transcript": "ENST00000946434.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 740,
"aa_ref": "D",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4060,
"cdna_start": 2990,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1663,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879081.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1663G>A",
"hgvs_p": "p.Asp555Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549140.1",
"strand": false,
"transcript": "ENST00000879081.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 739,
"aa_ref": "D",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4007,
"cdna_start": 2937,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1660,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879086.1",
"gene_hgnc_id": 11837,
"gene_symbol": "TLE1",
"hgvs_c": "c.1660G>A",
"hgvs_p": "p.Asp554Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549145.1",
"strand": false,
"transcript": "ENST00000879086.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 730,
"aa_ref": "D",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4030,
"cdna_start": 2960,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1633,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879080.1",
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}