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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: 19-40622441-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=40622441&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "LTBP4",
"hgnc_id": 6717,
"hgvs_c": "c.3459C>T",
"hgvs_p": "p.Pro1153Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -11,
"transcript": "NM_001042544.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong,BP7",
"acmg_score": -11,
"allele_count_reference_population": 34,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "19",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": 3277,
"cds_end": null,
"cds_length": 4674,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001042545.2",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Pro1086Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396819.8",
"protein_coding": true,
"protein_id": "NP_001036010.1",
"strand": true,
"transcript": "NM_001042545.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1557,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4961,
"cdna_start": 3277,
"cds_end": null,
"cds_length": 4674,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000396819.8",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Pro1086Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001042545.2",
"protein_coding": true,
"protein_id": "ENSP00000380031.5",
"strand": true,
"transcript": "ENST00000396819.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "P",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4948,
"cdna_start": 3459,
"cds_end": null,
"cds_length": 4875,
"cds_start": 3459,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000308370.11",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3459C>T",
"hgvs_p": "p.Pro1153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000311905.8",
"strand": true,
"transcript": "ENST00000308370.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "P",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5032,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 4764,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000204005.13",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3348C>T",
"hgvs_p": "p.Pro1116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000204005.10",
"strand": true,
"transcript": "ENST00000204005.13",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 671,
"aa_ref": "P",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 895,
"cds_end": null,
"cds_length": 2018,
"cds_start": 894,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000601032.5",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.894C>T",
"hgvs_p": "p.Pro298Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470824.1",
"strand": true,
"transcript": "ENST00000601032.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1624,
"aa_ref": "P",
"aa_start": 1153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5145,
"cdna_start": 3459,
"cds_end": null,
"cds_length": 4875,
"cds_start": 3459,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001042544.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3459C>T",
"hgvs_p": "p.Pro1153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036009.1",
"strand": true,
"transcript": "NM_001042544.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1587,
"aa_ref": "P",
"aa_start": 1116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5034,
"cdna_start": 3348,
"cds_end": null,
"cds_length": 4764,
"cds_start": 3348,
"consequences": [
"synonymous_variant"
],
"exon_count": 33,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_003573.2",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3348C>T",
"hgvs_p": "p.Pro1116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003564.2",
"strand": true,
"transcript": "NM_003573.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "P",
"aa_start": 1094,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4974,
"cdna_start": 3291,
"cds_end": null,
"cds_length": 4698,
"cds_start": 3282,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000969228.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3282C>T",
"hgvs_p": "p.Pro1094Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639287.1",
"strand": true,
"transcript": "ENST00000969228.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1533,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4912,
"cdna_start": 3298,
"cds_end": null,
"cds_length": 4602,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000908835.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Pro1086Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578894.1",
"strand": true,
"transcript": "ENST00000908835.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1515,
"aa_ref": "P",
"aa_start": 1044,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4858,
"cdna_start": 3172,
"cds_end": null,
"cds_length": 4548,
"cds_start": 3132,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000908836.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3132C>T",
"hgvs_p": "p.Pro1044Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578895.1",
"strand": true,
"transcript": "ENST00000908836.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1508,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4818,
"cdna_start": 3279,
"cds_end": null,
"cds_length": 4527,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000969223.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Pro1086Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639282.1",
"strand": true,
"transcript": "ENST00000969223.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1478,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4711,
"cdna_start": 3264,
"cds_end": null,
"cds_length": 4437,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000908839.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Pro1086Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578898.1",
"strand": true,
"transcript": "ENST00000908839.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1447,
"aa_ref": "P",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4665,
"cdna_start": 3053,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3000,
"consequences": [
"synonymous_variant"
],
"exon_count": 27,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000908834.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3000C>T",
"hgvs_p": "p.Pro1000Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578893.1",
"strand": true,
"transcript": "ENST00000908834.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1442,
"aa_ref": "P",
"aa_start": 1086,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4603,
"cdna_start": 3264,
"cds_end": null,
"cds_length": 4329,
"cds_start": 3258,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000969230.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3258C>T",
"hgvs_p": "p.Pro1086Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639289.1",
"strand": true,
"transcript": "ENST00000969230.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1412,
"aa_ref": "P",
"aa_start": 965,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4526,
"cdna_start": 2914,
"cds_end": null,
"cds_length": 4239,
"cds_start": 2895,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000908837.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2895C>T",
"hgvs_p": "p.Pro965Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578896.1",
"strand": true,
"transcript": "ENST00000908837.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "P",
"aa_start": 958,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 2902,
"cds_end": null,
"cds_length": 4218,
"cds_start": 2874,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000969221.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2874C>T",
"hgvs_p": "p.Pro958Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639280.1",
"strand": true,
"transcript": "ENST00000969221.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1366,
"aa_ref": "P",
"aa_start": 919,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4394,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 4101,
"cds_start": 2757,
"consequences": [
"synonymous_variant"
],
"exon_count": 26,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000969222.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.2757C>T",
"hgvs_p": "p.Pro919Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639281.1",
"strand": true,
"transcript": "ENST00000969222.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1355,
"aa_ref": "P",
"aa_start": 1000,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4354,
"cdna_start": 3019,
"cds_end": null,
"cds_length": 4068,
"cds_start": 3000,
"consequences": [
"synonymous_variant"
],
"exon_count": 25,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000969226.1",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.3000C>T",
"hgvs_p": "p.Pro1000Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639285.1",
"strand": true,
"transcript": "ENST00000969226.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 956,
"aa_ref": "P",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3140,
"cdna_start": 1457,
"cds_end": null,
"cds_length": 2871,
"cds_start": 1455,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000243562.13",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.1455C>T",
"hgvs_p": "p.Pro485Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000243562.10",
"strand": true,
"transcript": "ENST00000243562.13",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 222,
"aa_ref": "P",
"aa_start": 216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 670,
"cdna_start": 649,
"cds_end": null,
"cds_length": 669,
"cds_start": 648,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000597071.5",
"gene_hgnc_id": 6717,
"gene_symbol": "LTBP4",
"hgvs_c": "c.648C>T",
"hgvs_p": "p.Pro216Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472995.1",
"strand": true,
"transcript": "ENST00000597071.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1468,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": null,
"cds_end": null,
"cds_length": 4407,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
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