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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: 19-55133961-GGTGGGGAC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55133961&ref=GGTGGGGAC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TNNT1",
"hgnc_id": 11948,
"hgvs_c": "c.751-41_751-35delTCCCCAC",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_003283.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003283.6",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.751-41_751-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000588981.6",
"protein_coding": true,
"protein_id": "NP_003274.3",
"strand": false,
"transcript": "NM_003283.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 278,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": null,
"cds_end": null,
"cds_length": 837,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000588981.6",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.751-41_751-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003283.6",
"protein_coding": true,
"protein_id": "ENSP00000467176.1",
"strand": false,
"transcript": "ENST00000588981.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 967,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000291901.12",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.703-41_703-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000291901.8",
"strand": false,
"transcript": "ENST00000291901.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": null,
"cds_end": null,
"cds_length": 756,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356783.9",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.670-41_670-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349233.4",
"strand": false,
"transcript": "ENST00000356783.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": null,
"cds_end": null,
"cds_length": 756,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587758.5",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.670-41_670-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467789.1",
"strand": false,
"transcript": "ENST00000587758.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964355.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.916-41_916-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634414.1",
"strand": false,
"transcript": "ENST00000964355.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 322,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": null,
"cds_end": null,
"cds_length": 969,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964357.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.883-41_883-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634416.1",
"strand": false,
"transcript": "ENST00000964357.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964358.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.718-41_718-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634417.1",
"strand": false,
"transcript": "ENST00000964358.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 262,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1063,
"cdna_start": null,
"cds_end": null,
"cds_length": 789,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001126132.3",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.703-41_703-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119604.1",
"strand": false,
"transcript": "NM_001126132.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1110,
"cdna_start": null,
"cds_end": null,
"cds_length": 786,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964356.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.700-41_700-35delTCCCCAC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634415.1",
"strand": false,
"transcript": "ENST00000964356.1",
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},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000964359.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.703-41_703-35delTCCCCAC",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634418.1",
"strand": false,
"transcript": "ENST00000964359.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000964364.1",
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"gene_symbol": "TNNT1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634423.1",
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"transcript": "ENST00000964364.1",
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},
{
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],
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"feature": "NM_001126133.3",
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"protein_id": "NP_001119605.1",
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"transcript": "NM_001126133.3",
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},
{
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 14,
"exon_rank": null,
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"feature": "NM_001291774.2",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.670-41_670-35delTCCCCAC",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001278703.1",
"strand": false,
"transcript": "NM_001291774.2",
"transcript_support_level": null
},
{
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],
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"feature": "ENST00000964361.1",
"gene_hgnc_id": 11948,
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"hgvs_c": "c.667-41_667-35delTCCCCAC",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634420.1",
"strand": false,
"transcript": "ENST00000964361.1",
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},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000964363.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.664-41_664-35delTCCCCAC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000634422.1",
"strand": false,
"transcript": "ENST00000964363.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000964365.1",
"gene_hgnc_id": 11948,
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"hgvs_c": "c.661-41_661-35delTCCCCAC",
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},
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],
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"feature": "ENST00000964360.1",
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"protein_id": "ENSP00000634419.1",
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},
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],
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"feature": "ENST00000593194.5",
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000585321.6",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.493-41_493-35delTCCCCAC",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000467980.2",
"strand": false,
"transcript": "ENST00000585321.6",
"transcript_support_level": 5
},
{
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"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 579,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587465.6",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.493-41_493-35delTCCCCAC",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000464843.2",
"strand": false,
"transcript": "ENST00000587465.6",
"transcript_support_level": 5
},
{
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