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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: 16-1495524-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1495524&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "TELO2",
"hgnc_id": 29099,
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"inheritance_mode": "AR",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_016111.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.5,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.5,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 796,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016111.4",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000262319.11",
"protein_coding": true,
"protein_id": "NP_057195.2",
"strand": true,
"transcript": "NM_016111.4",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3314,
"cdna_start": 796,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000262319.11",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016111.4",
"protein_coding": true,
"protein_id": "ENSP00000262319.6",
"strand": true,
"transcript": "ENST00000262319.11",
"transcript_support_level": 1
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 884,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3212,
"cdna_start": 553,
"cds_end": null,
"cds_length": 2655,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889741.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559800.1",
"strand": true,
"transcript": "ENST00000889741.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 884,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3489,
"cdna_start": 827,
"cds_end": null,
"cds_length": 2655,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914530.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584589.1",
"strand": true,
"transcript": "ENST00000914530.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 878,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 553,
"cds_end": null,
"cds_length": 2637,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889740.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559799.1",
"strand": true,
"transcript": "ENST00000889740.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 878,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3216,
"cdna_start": 575,
"cds_end": null,
"cds_length": 2637,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889743.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559802.1",
"strand": true,
"transcript": "ENST00000889743.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 878,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3440,
"cdna_start": 802,
"cds_end": null,
"cds_length": 2637,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962544.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632603.1",
"strand": true,
"transcript": "ENST00000962544.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 847,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3294,
"cdna_start": 743,
"cds_end": null,
"cds_length": 2544,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914534.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584593.1",
"strand": true,
"transcript": "ENST00000914534.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 845,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 597,
"cds_end": null,
"cds_length": 2538,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962546.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632605.1",
"strand": true,
"transcript": "ENST00000962546.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 843,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3343,
"cdna_start": 803,
"cds_end": null,
"cds_length": 2532,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962543.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632602.1",
"strand": true,
"transcript": "ENST00000962543.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 761,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001351846.2",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001338775.1",
"strand": true,
"transcript": "NM_001351846.2",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3293,
"cdna_start": 770,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889735.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559794.1",
"strand": true,
"transcript": "ENST00000889735.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3290,
"cdna_start": 767,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889736.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559795.1",
"strand": true,
"transcript": "ENST00000889736.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3191,
"cdna_start": 676,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889738.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559797.1",
"strand": true,
"transcript": "ENST00000889738.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3312,
"cdna_start": 790,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889739.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559798.1",
"strand": true,
"transcript": "ENST00000889739.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3134,
"cdna_start": 620,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889742.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559801.1",
"strand": true,
"transcript": "ENST00000889742.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3523,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000889744.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559803.1",
"strand": true,
"transcript": "ENST00000889744.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1416,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 20,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914532.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584591.1",
"strand": true,
"transcript": "ENST00000914532.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3094,
"cdna_start": 573,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000914535.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584594.1",
"strand": true,
"transcript": "ENST00000914535.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 599,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000962545.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632604.1",
"strand": true,
"transcript": "ENST00000962545.1",
"transcript_support_level": null
},
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 837,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3108,
"cdna_start": 594,
"cds_end": null,
"cds_length": 2514,
"cds_start": 514,
"consequences": [
"stop_gained"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000962547.1",
"gene_hgnc_id": 29099,
"gene_symbol": "TELO2",
"hgvs_c": "c.514C>T",
"hgvs_p": "p.Gln172*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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