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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: 9-127502837-CGC-TTG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127502837&ref=CGC&alt=TTG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRSAM1",
"hgnc_id": 25135,
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_138361.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 2458,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005373.4",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300417.11",
"protein_coding": true,
"protein_id": "NP_001005373.1",
"strand": true,
"transcript": "NM_001005373.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 2458,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000300417.11",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001005373.4",
"protein_coding": true,
"protein_id": "ENSP00000300417.6",
"strand": true,
"transcript": "ENST00000300417.11",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373322.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362419.1",
"strand": true,
"transcript": "ENST00000373322.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 2620,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870574.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2266_2268delCGCinsTTG",
"hgvs_p": "p.Arg756Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540633.1",
"strand": true,
"transcript": "ENST00000870574.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 775,
"aa_ref": "R",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3484,
"cdna_start": 2823,
"cds_end": null,
"cds_length": 2328,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870580.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2266_2268delCGCinsTTG",
"hgvs_p": "p.Arg756Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540639.1",
"strand": true,
"transcript": "ENST00000870580.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 767,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 2590,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2242,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942479.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2242_2244delCGCinsTTG",
"hgvs_p": "p.Arg748Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612538.1",
"strand": true,
"transcript": "ENST00000942479.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 767,
"aa_ref": "R",
"aa_start": 748,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3503,
"cdna_start": 2842,
"cds_end": null,
"cds_length": 2304,
"cds_start": 2242,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942486.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2242_2244delCGCinsTTG",
"hgvs_p": "p.Arg748Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612545.1",
"strand": true,
"transcript": "ENST00000942486.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 764,
"aa_ref": "R",
"aa_start": 745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2567,
"cds_end": null,
"cds_length": 2295,
"cds_start": 2233,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942488.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2233_2235delCGCinsTTG",
"hgvs_p": "p.Arg745Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612547.1",
"strand": true,
"transcript": "ENST00000942488.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 750,
"aa_ref": "R",
"aa_start": 731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 2539,
"cds_end": null,
"cds_length": 2253,
"cds_start": 2191,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000676170.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2191_2193delCGCinsTTG",
"hgvs_p": "p.Arg731Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502177.1",
"strand": true,
"transcript": "ENST00000676170.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 733,
"aa_ref": "R",
"aa_start": 714,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3184,
"cdna_start": 2520,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2140,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870573.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2140_2142delCGCinsTTG",
"hgvs_p": "p.Arg714Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540632.1",
"strand": true,
"transcript": "ENST00000870573.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 731,
"aa_ref": "R",
"aa_start": 712,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3141,
"cdna_start": 2479,
"cds_end": null,
"cds_length": 2196,
"cds_start": 2134,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000942482.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2134_2136delCGCinsTTG",
"hgvs_p": "p.Arg712Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612541.1",
"strand": true,
"transcript": "ENST00000942482.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2849,
"cdna_start": 2187,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001005374.4",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005374.1",
"strand": true,
"transcript": "NM_001005374.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 3475,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384142.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371071.1",
"strand": true,
"transcript": "NM_001384142.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": 2741,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_138361.5",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_612370.3",
"strand": true,
"transcript": "NM_138361.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3376,
"cdna_start": 2714,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000323301.8",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322937.4",
"strand": true,
"transcript": "ENST00000323301.8",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3096,
"cdna_start": 2447,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000675448.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502167.1",
"strand": true,
"transcript": "ENST00000675448.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3130,
"cdna_start": 2466,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870579.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540638.1",
"strand": true,
"transcript": "ENST00000870579.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5405,
"cdna_start": 4741,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000870581.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540640.1",
"strand": true,
"transcript": "ENST00000870581.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2969,
"cdna_start": 2306,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923145.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593204.1",
"strand": true,
"transcript": "ENST00000923145.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4134,
"cdna_start": 3469,
"cds_end": null,
"cds_length": 2172,
"cds_start": 2110,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000923146.1",
"gene_hgnc_id": 25135,
"gene_symbol": "LRSAM1",
"hgvs_c": "c.2110_2112delCGCinsTTG",
"hgvs_p": "p.Arg704Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593205.1",
"strand": true,
"transcript": "ENST00000923146.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 723,
"aa_ref": "R",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3008,
"cdna_start": 2342,
"cds_end": null,
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