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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: 19-55141915-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55141915&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TNNT1",
"hgnc_id": 11948,
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_003283.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6",
"acmg_score": -5,
"allele_count_reference_population": 148,
"alphamissense_prediction": null,
"alphamissense_score": 0.2632,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.05,
"chr": "19",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,Nemaline myopathy 5,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009342879056930542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 191,
"cds_end": null,
"cds_length": 837,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_003283.6",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 278,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": 191,
"cds_end": null,
"cds_length": 837,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000588981.6",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 262,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 967,
"cdna_start": 191,
"cds_end": null,
"cds_length": 789,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000291901.12",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 251,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 934,
"cdna_start": 158,
"cds_end": null,
"cds_length": 756,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000356783.9",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 251,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1016,
"cdna_start": 240,
"cds_end": null,
"cds_length": 756,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000587758.5",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 143,
"aa_ref": "P",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 489,
"cdna_start": 179,
"cds_end": null,
"cds_length": 432,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000588147.5",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467299.1",
"strand": false,
"transcript": "ENST00000588147.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 333,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 336,
"cds_end": null,
"cds_length": 1002,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964355.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 322,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1143,
"cdna_start": 159,
"cds_end": null,
"cds_length": 969,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964357.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 267,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 949,
"cdna_start": 158,
"cds_end": null,
"cds_length": 804,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964358.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"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": "L",
"aa_end": null,
"aa_length": 262,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1063,
"cdna_start": 191,
"cds_end": null,
"cds_length": 789,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001126132.3",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"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
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 261,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1110,
"cdna_start": 336,
"cds_end": null,
"cds_length": 786,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964356.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634415.1",
"strand": false,
"transcript": "ENST00000964356.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 261,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 930,
"cdna_start": 191,
"cds_end": null,
"cds_length": 786,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964359.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634418.1",
"strand": false,
"transcript": "ENST00000964359.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 257,
"aa_ref": "P",
"aa_start": 41,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 912,
"cdna_start": 179,
"cds_end": null,
"cds_length": 774,
"cds_start": 122,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964364.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.122C>T",
"hgvs_p": "p.Pro41Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634423.1",
"strand": false,
"transcript": "ENST00000964364.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 251,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 158,
"cds_end": null,
"cds_length": 756,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001126133.3",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001119605.1",
"strand": false,
"transcript": "NM_001126133.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 251,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1125,
"cdna_start": 253,
"cds_end": null,
"cds_length": 756,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001291774.2",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001278703.1",
"strand": false,
"transcript": "NM_001291774.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 250,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 896,
"cdna_start": 159,
"cds_end": null,
"cds_length": 753,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964361.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634420.1",
"strand": false,
"transcript": "ENST00000964361.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 249,
"aa_ref": "P",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 888,
"cdna_start": 155,
"cds_end": null,
"cds_length": 750,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964363.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.98C>T",
"hgvs_p": "p.Pro33Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634422.1",
"strand": false,
"transcript": "ENST00000964363.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 248,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 880,
"cdna_start": 158,
"cds_end": null,
"cds_length": 747,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000964365.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634424.1",
"strand": false,
"transcript": "ENST00000964365.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 236,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 855,
"cdna_start": 191,
"cds_end": null,
"cds_length": 711,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000964360.1",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634419.1",
"strand": false,
"transcript": "ENST00000964360.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 202,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 800,
"cdna_start": 323,
"cds_end": null,
"cds_length": 611,
"cds_start": 134,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000593046.5",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.134C>T",
"hgvs_p": "p.Pro45Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470777.1",
"strand": false,
"transcript": "ENST00000593046.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 150,
"aa_ref": "P",
"aa_start": 34,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 604,
"cdna_start": 252,
"cds_end": null,
"cds_length": 453,
"cds_start": 101,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000589226.5",
"gene_hgnc_id": 11948,
"gene_symbol": "TNNT1",
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Pro34Leu",
"intron_rank": null,
"intron_rank_end": null,
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