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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: 21-42384006-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=42384006&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"effects": [
"frameshift_variant"
],
"gene_symbol": "TMPRSS3",
"hgnc_id": 11877,
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"inheritance_mode": "AR",
"pathogenic_score": 18,
"score": 18,
"transcript": "NM_024022.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_score": 18,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "21",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 8,Hearing impairment,Rare genetic deafness,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5 LP:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1362,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001256317.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000644384.2",
"protein_coding": true,
"protein_id": "NP_001243246.1",
"strand": false,
"transcript": "NM_001256317.3",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1362,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000644384.2",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001256317.3",
"protein_coding": true,
"protein_id": "ENSP00000494414.1",
"strand": false,
"transcript": "ENST00000644384.2",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000433957.7",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411013.3",
"strand": false,
"transcript": "ENST00000433957.7",
"transcript_support_level": 1
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 344,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": 780,
"cds_end": null,
"cds_length": 1035,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000398397.3",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381434.3",
"strand": false,
"transcript": "ENST00000398397.3",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000474596.5",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "n.447dupA",
"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": "ENST00000474596.5",
"transcript_support_level": 1
},
{
"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": 2524,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000482761.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "n.866dupA",
"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": "ENST00000482761.1",
"transcript_support_level": 1
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2469,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1368,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896622.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566681.1",
"strand": false,
"transcript": "ENST00000896622.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 455,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": 857,
"cds_end": null,
"cds_length": 1368,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896631.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566690.1",
"strand": false,
"transcript": "ENST00000896631.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024022.4",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_076927.1",
"strand": false,
"transcript": "NM_024022.4",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2467,
"cdna_start": 808,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896621.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566680.1",
"strand": false,
"transcript": "ENST00000896621.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896625.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566684.1",
"strand": false,
"transcript": "ENST00000896625.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2687,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896629.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566688.1",
"strand": false,
"transcript": "ENST00000896629.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1808,
"cdna_start": 674,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896630.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566689.1",
"strand": false,
"transcript": "ENST00000896630.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 454,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1365,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000957272.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627331.1",
"strand": false,
"transcript": "ENST00000957272.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2544,
"cdna_start": 931,
"cds_end": null,
"cds_length": 1362,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000652415.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498756.1",
"strand": false,
"transcript": "ENST00000652415.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1362,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896627.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566686.1",
"strand": false,
"transcript": "ENST00000896627.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 453,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2739,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1362,
"cds_start": 579,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896628.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.579dupA",
"hgvs_p": "p.Cys194fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566687.1",
"strand": false,
"transcript": "ENST00000896628.1",
"transcript_support_level": null
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 451,
"aa_ref": "G",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2754,
"cdna_start": 1099,
"cds_end": null,
"cds_length": 1356,
"cds_start": 573,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000398405.5",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.573dupA",
"hgvs_p": "p.Cys192fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381442.1",
"strand": false,
"transcript": "ENST00000398405.5",
"transcript_support_level": 5
},
{
"aa_alt": "G?",
"aa_end": null,
"aa_length": 417,
"aa_ref": "G",
"aa_start": 156,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2269,
"cdna_start": 610,
"cds_end": null,
"cds_length": 1254,
"cds_start": 468,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000957273.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.468dupA",
"hgvs_p": "p.Cys157fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627332.1",
"strand": false,
"transcript": "ENST00000957273.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 388,
"aa_ref": "M",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2241,
"cdna_start": 751,
"cds_end": null,
"cds_length": 1167,
"cds_start": 547,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896623.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.547dupA",
"hgvs_p": "p.Met183fs",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566682.1",
"strand": false,
"transcript": "ENST00000896623.1",
"transcript_support_level": null
},
{
"aa_alt": "N?",
"aa_end": null,
"aa_length": 387,
"aa_ref": "M",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 709,
"cds_end": null,
"cds_length": 1164,
"cds_start": 547,
"consequences": [
"frameshift_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896624.1",
"gene_hgnc_id": 11877,
"gene_symbol": "TMPRSS3",
"hgvs_c": "c.547dupA",
"hgvs_p": "p.Met183fs",
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}