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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: 19-55154798-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55154798&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TNNI3",
"hgnc_id": 11947,
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Asp105Asp",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_000363.5",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000267110",
"hgnc_id": null,
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -4,
"transcript": "ENST00000587871.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Hypertrophic cardiomyopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 210,
"aa_ref": "D",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 843,
"cdna_start": 458,
"cds_end": null,
"cds_length": 633,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_000363.5",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Asp105Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344887.10",
"protein_coding": true,
"protein_id": "NP_000354.4",
"strand": false,
"transcript": "NM_000363.5",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 210,
"aa_ref": "D",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 843,
"cdna_start": 458,
"cds_end": null,
"cds_length": 633,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000344887.10",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Asp105Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000363.5",
"protein_coding": true,
"protein_id": "ENSP00000341838.5",
"strand": false,
"transcript": "ENST00000344887.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000587871.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267110",
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473050.1",
"strand": false,
"transcript": "ENST00000587871.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 975,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000587871.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000267110",
"hgvs_c": "n.*417C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000473050.1",
"strand": false,
"transcript": "ENST00000587871.1",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 221,
"aa_ref": "D",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 871,
"cdna_start": 458,
"cds_end": null,
"cds_length": 666,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000665070.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Asp105Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499482.1",
"strand": false,
"transcript": "ENST00000665070.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 206,
"aa_ref": "D",
"aa_start": 101,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 831,
"cdna_start": 446,
"cds_end": null,
"cds_length": 621,
"cds_start": 303,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000714238.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.303C>T",
"hgvs_p": "p.Asp101Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519518.1",
"strand": false,
"transcript": "ENST00000714238.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 202,
"aa_ref": "D",
"aa_start": 105,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 816,
"cdna_start": 458,
"cds_end": null,
"cds_length": 609,
"cds_start": 315,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955280.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.315C>T",
"hgvs_p": "p.Asp105Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625339.1",
"strand": false,
"transcript": "ENST00000955280.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 196,
"aa_ref": "D",
"aa_start": 91,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 801,
"cdna_start": 416,
"cds_end": null,
"cds_length": 591,
"cds_start": 273,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000714236.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.273C>T",
"hgvs_p": "p.Asp91Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519516.1",
"strand": false,
"transcript": "ENST00000714236.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 714,
"cdna_start": 299,
"cds_end": null,
"cds_length": 582,
"cds_start": 231,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955282.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625341.1",
"strand": false,
"transcript": "ENST00000955282.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 191,
"aa_ref": "D",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": 402,
"cds_end": null,
"cds_length": 576,
"cds_start": 258,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955279.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.258C>T",
"hgvs_p": "p.Asp86Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625338.1",
"strand": false,
"transcript": "ENST00000955279.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 185,
"aa_ref": "D",
"aa_start": 80,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": 288,
"cds_end": null,
"cds_length": 558,
"cds_start": 240,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000588882.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.240C>T",
"hgvs_p": "p.Asp80Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466729.1",
"strand": false,
"transcript": "ENST00000588882.1",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 182,
"aa_ref": "D",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 759,
"cdna_start": 374,
"cds_end": null,
"cds_length": 549,
"cds_start": 231,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000714237.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.231C>T",
"hgvs_p": "p.Asp77Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519517.1",
"strand": false,
"transcript": "ENST00000714237.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 176,
"aa_ref": "D",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 736,
"cdna_start": 356,
"cds_end": null,
"cds_length": 531,
"cds_start": 213,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955281.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.213C>T",
"hgvs_p": "p.Asp71Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625340.1",
"strand": false,
"transcript": "ENST00000955281.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 141,
"aa_ref": "D",
"aa_start": 36,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": 156,
"cds_end": null,
"cds_length": 426,
"cds_start": 108,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000714240.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "c.108C>T",
"hgvs_p": "p.Asp36Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519520.1",
"strand": false,
"transcript": "ENST00000714240.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 699,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000585806.5",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000585806.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000586669.5",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "n.323C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000586669.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 774,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000586858.2",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "n.*86C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465258.2",
"strand": false,
"transcript": "ENST00000586858.2",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 992,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000587176.5",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "n.499C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000587176.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 539,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000590463.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "n.487C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000590463.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 397,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000714235.1",
"gene_hgnc_id": 11947,
"gene_symbol": "TNNI3",
"hgvs_c": "n.314C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000714235.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 787,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
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}