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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: 1-201361970-ATCTTCT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201361970&ref=ATCTTCT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM4",
"PP3"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "TNNT2",
"hgnc_id": 11949,
"hgvs_c": "c.656_661delAGAAGA",
"hgvs_p": "p.Lys219_Lys220del",
"inheritance_mode": "AD,AR",
"pathogenic_score": 7,
"score": 7,
"transcript": "NM_001276345.2",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000286600",
"hgnc_id": null,
"hgvs_c": "n.699_704delAGAAGA",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000671234.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM4,PP3",
"acmg_score": 7,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 3, familial restrictive,Cardiomyopathy,Dilated cardiomyopathy 1D,Hypertrophic cardiomyopathy 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 298,
"aa_ref": "KKI",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 733,
"cds_end": null,
"cds_length": 897,
"cds_start": 656,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001276345.2",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.656_661delAGAAGA",
"hgvs_p": "p.Lys219_Lys220del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000656932.1",
"protein_coding": true,
"protein_id": "NP_001263274.1",
"strand": false,
"transcript": "NM_001276345.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 298,
"aa_ref": "KKI",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1165,
"cdna_start": 733,
"cds_end": null,
"cds_length": 897,
"cds_start": 656,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000656932.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.656_661delAGAAGA",
"hgvs_p": "p.Lys219_Lys220del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001276345.2",
"protein_coding": true,
"protein_id": "ENSP00000499593.1",
"strand": false,
"transcript": "ENST00000656932.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 284,
"aa_ref": "KKI",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1127,
"cdna_start": 695,
"cds_end": null,
"cds_length": 855,
"cds_start": 614,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000367322.6",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.614_619delAGAAGA",
"hgvs_p": "p.Lys205_Lys206del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356291.2",
"strand": false,
"transcript": "ENST00000367322.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 255,
"aa_ref": "KKI",
"aa_start": 176,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1007,
"cdna_start": 585,
"cds_end": null,
"cds_length": 768,
"cds_start": 527,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000367320.6",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.527_532delAGAAGA",
"hgvs_p": "p.Lys176_Lys177del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356289.2",
"strand": false,
"transcript": "ENST00000367320.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 368,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1139,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1107,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000658476.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499741.1",
"strand": false,
"transcript": "ENST00000658476.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 298,
"aa_ref": "KKI",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1168,
"cdna_start": 736,
"cds_end": null,
"cds_length": 897,
"cds_start": 656,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 18,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000714314.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.656_661delAGAAGA",
"hgvs_p": "p.Lys219_Lys220del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519590.1",
"strand": false,
"transcript": "ENST00000714314.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 295,
"aa_ref": "KKI",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1156,
"cdna_start": 724,
"cds_end": null,
"cds_length": 888,
"cds_start": 647,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000364.4",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.647_652delAGAAGA",
"hgvs_p": "p.Lys216_Lys217del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000355.2",
"strand": false,
"transcript": "NM_000364.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 295,
"aa_ref": "KKI",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1289,
"cdna_start": 857,
"cds_end": null,
"cds_length": 888,
"cds_start": 647,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406723.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.647_652delAGAAGA",
"hgvs_p": "p.Lys216_Lys217del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393652.1",
"strand": false,
"transcript": "NM_001406723.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 295,
"aa_ref": "KKI",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1156,
"cdna_start": 724,
"cds_end": null,
"cds_length": 888,
"cds_start": 647,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000422165.6",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.647_652delAGAAGA",
"hgvs_p": "p.Lys216_Lys217del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395163.2",
"strand": false,
"transcript": "ENST00000422165.6",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 293,
"aa_ref": "KKI",
"aa_start": 214,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1128,
"cdna_start": 690,
"cds_end": null,
"cds_length": 882,
"cds_start": 641,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000455702.7",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.641_646delAGAAGA",
"hgvs_p": "p.Lys214_Lys215del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402238.3",
"strand": false,
"transcript": "ENST00000455702.7",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1135,
"cdna_start": 703,
"cds_end": null,
"cds_length": 867,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001001430.3",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001430.1",
"strand": false,
"transcript": "NM_001001430.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1268,
"cdna_start": 836,
"cds_end": null,
"cds_length": 867,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001276347.2",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001263276.1",
"strand": false,
"transcript": "NM_001276347.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 694,
"cds_end": null,
"cds_length": 867,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406724.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393653.1",
"strand": false,
"transcript": "NM_001406724.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1135,
"cdna_start": 703,
"cds_end": null,
"cds_length": 867,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000367318.10",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356287.5",
"strand": false,
"transcript": "ENST00000367318.10",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1330,
"cdna_start": 918,
"cds_end": null,
"cds_length": 867,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000509001.5",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422031.1",
"strand": false,
"transcript": "ENST00000509001.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 288,
"aa_ref": "KKI",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1302,
"cdna_start": 864,
"cds_end": null,
"cds_length": 867,
"cds_start": 626,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 17,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000660295.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.626_631delAGAAGA",
"hgvs_p": "p.Lys209_Lys210del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499418.1",
"strand": false,
"transcript": "ENST00000660295.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 287,
"aa_ref": "KKI",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1132,
"cdna_start": 700,
"cds_end": null,
"cds_length": 864,
"cds_start": 623,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001406725.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.623_628delAGAAGA",
"hgvs_p": "p.Lys208_Lys209del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393654.1",
"strand": false,
"transcript": "NM_001406725.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 285,
"aa_ref": "KKI",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1126,
"cdna_start": 694,
"cds_end": null,
"cds_length": 858,
"cds_start": 617,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001001431.3",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.617_622delAGAAGA",
"hgvs_p": "p.Lys206_Lys207del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001431.1",
"strand": false,
"transcript": "NM_001001431.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 285,
"aa_ref": "KKI",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1259,
"cdna_start": 827,
"cds_end": null,
"cds_length": 858,
"cds_start": 617,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001406726.1",
"gene_hgnc_id": 11949,
"gene_symbol": "TNNT2",
"hgvs_c": "c.617_622delAGAAGA",
"hgvs_p": "p.Lys206_Lys207del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001393655.1",
"strand": false,
"transcript": "NM_001406726.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 285,
"aa_ref": "KKI",
"aa_start": 206,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 685,
"cds_end": null,
"cds_length": 858,
"cds_start": 617,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 15,
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