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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: 14-88853015-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=88853015&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "TTC8",
"hgnc_id": 20087,
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Lys239Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001288781.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_score": -11,
"allele_count_reference_population": 942,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "14",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Bardet-Biedl syndrome,Bardet-Biedl syndrome 8,Retinitis pigmentosa,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:3 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07100000232458115,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 515,
"aa_ref": "K",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1548,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_144596.4",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Lys223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380656.7",
"protein_coding": true,
"protein_id": "NP_653197.2",
"strand": true,
"transcript": "NM_144596.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 515,
"aa_ref": "K",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2183,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1548,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000380656.7",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Lys223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144596.4",
"protein_coding": true,
"protein_id": "ENSP00000370031.2",
"strand": true,
"transcript": "ENST00000380656.7",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2226,
"cdna_start": 769,
"cds_end": null,
"cds_length": 1596,
"cds_start": 717,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000338104.10",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Lys239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337653.6",
"strand": true,
"transcript": "ENST00000338104.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 505,
"aa_ref": "K",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5270,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1518,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000622513.4",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Lys213Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482721.1",
"strand": true,
"transcript": "ENST00000622513.4",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "K",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 601,
"cds_end": null,
"cds_length": 1428,
"cds_start": 549,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000346301.8",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.549G>A",
"hgvs_p": "p.Lys183Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000298324.6",
"strand": true,
"transcript": "ENST00000346301.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 250,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1342,
"cdna_start": null,
"cds_end": null,
"cds_length": 753,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354441.10",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.115-17044G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000346427.6",
"strand": true,
"transcript": "ENST00000354441.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555057.5",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450951.1",
"strand": true,
"transcript": "ENST00000555057.5",
"transcript_support_level": 1
},
{
"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": 2113,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000555057.5",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "n.*76G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000450951.1",
"strand": true,
"transcript": "ENST00000555057.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 558,
"aa_ref": "K",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1677,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881354.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Lys266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551413.1",
"strand": true,
"transcript": "ENST00000881354.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "K",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 913,
"cds_end": null,
"cds_length": 1596,
"cds_start": 717,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001288781.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.717G>A",
"hgvs_p": "p.Lys239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275710.1",
"strand": true,
"transcript": "NM_001288781.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 530,
"aa_ref": "K",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2227,
"cdna_start": 855,
"cds_end": null,
"cds_length": 1593,
"cds_start": 798,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971774.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.798G>A",
"hgvs_p": "p.Lys266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641833.1",
"strand": true,
"transcript": "ENST00000971774.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 528,
"aa_ref": "K",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2225,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1587,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000936986.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Lys236Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607045.1",
"strand": true,
"transcript": "ENST00000936986.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 505,
"aa_ref": "K",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2300,
"cdna_start": 835,
"cds_end": null,
"cds_length": 1518,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_198309.3",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Lys213Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_938051.1",
"strand": true,
"transcript": "NM_198309.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 501,
"aa_ref": "K",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 684,
"cds_end": null,
"cds_length": 1506,
"cds_start": 627,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971773.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.627G>A",
"hgvs_p": "p.Lys209Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641832.1",
"strand": true,
"transcript": "ENST00000971773.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 500,
"aa_ref": "K",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 765,
"cds_end": null,
"cds_length": 1503,
"cds_start": 708,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971771.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.708G>A",
"hgvs_p": "p.Lys236Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641830.1",
"strand": true,
"transcript": "ENST00000971771.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 496,
"aa_ref": "K",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1491,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881356.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Lys213Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551415.1",
"strand": true,
"transcript": "ENST00000881356.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 487,
"aa_ref": "K",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2090,
"cdna_start": 726,
"cds_end": null,
"cds_length": 1464,
"cds_start": 669,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000971776.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.669G>A",
"hgvs_p": "p.Lys223Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641835.1",
"strand": true,
"transcript": "ENST00000971776.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 485,
"aa_ref": "K",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 605,
"cds_end": null,
"cds_length": 1458,
"cds_start": 579,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000971778.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Lys193Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641837.1",
"strand": true,
"transcript": "ENST00000971778.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 477,
"aa_ref": "K",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5160,
"cdna_start": 696,
"cds_end": null,
"cds_length": 1434,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001366535.2",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Lys213Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353464.1",
"strand": true,
"transcript": "NM_001366535.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 477,
"aa_ref": "K",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3238,
"cdna_start": 741,
"cds_end": null,
"cds_length": 1434,
"cds_start": 639,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000881353.1",
"gene_hgnc_id": 20087,
"gene_symbol": "TTC8",
"hgvs_c": "c.639G>A",
"hgvs_p": "p.Lys213Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551412.1",
"strand": true,
"transcript": "ENST00000881353.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 475,
"aa_ref": "K",
"aa_start": 183,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 745,
"cds_end": null,
"cds_length": 1428,
"cds_start": 549,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_198310.3",
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