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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: 1-212815137-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=212815137&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TATDN3",
"hgnc_id": 27010,
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001146171.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1683,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08702453970909119,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 274,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 834,
"cds_end": null,
"cds_length": 825,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001042552.3",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.806G>T",
"hgvs_p": "p.Arg269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366974.9",
"protein_coding": true,
"protein_id": "NP_001036017.1",
"strand": true,
"transcript": "NM_001042552.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 274,
"aa_ref": "R",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 834,
"cds_end": null,
"cds_length": 825,
"cds_start": 806,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000366974.9",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.806G>T",
"hgvs_p": "p.Arg269Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042552.3",
"protein_coding": true,
"protein_id": "ENSP00000355941.4",
"strand": true,
"transcript": "ENST00000366974.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 841,
"cds_end": null,
"cds_length": 822,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000366973.8",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Arg268Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355940.4",
"strand": true,
"transcript": "ENST00000366973.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 240,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1291,
"cdna_start": null,
"cds_end": null,
"cds_length": 723,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000531963.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.*70G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433755.1",
"strand": true,
"transcript": "ENST00000531963.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 292,
"aa_ref": "R",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 901,
"cds_end": null,
"cds_length": 879,
"cds_start": 860,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000950486.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.860G>T",
"hgvs_p": "p.Arg287Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620545.1",
"strand": true,
"transcript": "ENST00000950486.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 287,
"aa_ref": "R",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2345,
"cdna_start": 856,
"cds_end": null,
"cds_length": 864,
"cds_start": 845,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000933547.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.845G>T",
"hgvs_p": "p.Arg282Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603606.1",
"strand": true,
"transcript": "ENST00000933547.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 855,
"cds_end": null,
"cds_length": 846,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001146171.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139643.1",
"strand": true,
"transcript": "NM_001146171.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1381,
"cdna_start": 921,
"cds_end": null,
"cds_length": 846,
"cds_start": 827,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000532324.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.827G>T",
"hgvs_p": "p.Arg276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431376.1",
"strand": true,
"transcript": "ENST00000532324.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 273,
"aa_ref": "R",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2524,
"cdna_start": 831,
"cds_end": null,
"cds_length": 822,
"cds_start": 803,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001042553.3",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.803G>T",
"hgvs_p": "p.Arg268Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036018.1",
"strand": true,
"transcript": "NM_001042553.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 272,
"aa_ref": "R",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2534,
"cdna_start": 847,
"cds_end": null,
"cds_length": 819,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883558.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.800G>T",
"hgvs_p": "p.Arg267Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553617.1",
"strand": true,
"transcript": "ENST00000883558.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 262,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 771,
"cds_end": null,
"cds_length": 789,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000933544.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603603.1",
"strand": true,
"transcript": "ENST00000933544.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 260,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 816,
"cds_end": null,
"cds_length": 783,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000950484.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620543.1",
"strand": true,
"transcript": "ENST00000950484.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 255,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 767,
"cds_end": null,
"cds_length": 768,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000933546.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.749G>T",
"hgvs_p": "p.Arg250Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603605.1",
"strand": true,
"transcript": "ENST00000933546.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2464,
"cdna_start": 771,
"cds_end": null,
"cds_length": 762,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001146170.2",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.743G>T",
"hgvs_p": "p.Arg248Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139642.1",
"strand": true,
"transcript": "NM_001146170.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 253,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1073,
"cdna_start": 795,
"cds_end": null,
"cds_length": 762,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000526641.5",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.743G>T",
"hgvs_p": "p.Arg248Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434801.1",
"strand": true,
"transcript": "ENST00000526641.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 252,
"aa_ref": "R",
"aa_start": 247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 768,
"cds_end": null,
"cds_length": 759,
"cds_start": 740,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883560.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.740G>T",
"hgvs_p": "p.Arg247Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553619.1",
"strand": true,
"transcript": "ENST00000883560.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 247,
"aa_ref": "R",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2290,
"cdna_start": 766,
"cds_end": null,
"cds_length": 744,
"cds_start": 725,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883559.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.725G>T",
"hgvs_p": "p.Arg242Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553618.1",
"strand": true,
"transcript": "ENST00000883559.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 181,
"aa_ref": "R",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 550,
"cds_end": null,
"cds_length": 546,
"cds_start": 527,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933545.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.527G>T",
"hgvs_p": "p.Arg176Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603604.1",
"strand": true,
"transcript": "ENST00000933545.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 180,
"aa_ref": "R",
"aa_start": 175,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 718,
"cdna_start": 532,
"cds_end": null,
"cds_length": 543,
"cds_start": 524,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000933548.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.524G>T",
"hgvs_p": "p.Arg175Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603607.1",
"strand": true,
"transcript": "ENST00000933548.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 160,
"aa_ref": "R",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": 492,
"cds_end": null,
"cds_length": 483,
"cds_start": 464,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000883561.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.464G>T",
"hgvs_p": "p.Arg155Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553620.1",
"strand": true,
"transcript": "ENST00000883561.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 159,
"aa_ref": "R",
"aa_start": 154,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2014,
"cdna_start": 489,
"cds_end": null,
"cds_length": 480,
"cds_start": 461,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000950485.1",
"gene_hgnc_id": 27010,
"gene_symbol": "TATDN3",
"hgvs_c": "c.461G>T",
"hgvs_p": "p.Arg154Leu",
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