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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: 2-96711709-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=96711709&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LMAN2L",
"hgnc_id": 19263,
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001142292.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2729,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "2",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5968673229217529,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1047,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_030805.4",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264963.9",
"protein_coding": true,
"protein_id": "NP_110432.1",
"strand": false,
"transcript": "NM_030805.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 348,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2398,
"cdna_start": 755,
"cds_end": null,
"cds_length": 1047,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000264963.9",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030805.4",
"protein_coding": true,
"protein_id": "ENSP00000264963.4",
"strand": false,
"transcript": "ENST00000264963.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 788,
"cds_end": null,
"cds_length": 1080,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000377079.8",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366280.4",
"strand": false,
"transcript": "ENST00000377079.8",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 361,
"aa_ref": "R",
"aa_start": 257,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2434,
"cdna_start": 794,
"cds_end": null,
"cds_length": 1086,
"cds_start": 770,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970314.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.770G>T",
"hgvs_p": "p.Arg257Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640373.1",
"strand": false,
"transcript": "ENST00000970314.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 359,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 788,
"cds_end": null,
"cds_length": 1080,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001142292.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135764.1",
"strand": false,
"transcript": "NM_001142292.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 350,
"aa_ref": "R",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2404,
"cdna_start": 761,
"cds_end": null,
"cds_length": 1053,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893541.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.737G>T",
"hgvs_p": "p.Arg246Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563600.1",
"strand": false,
"transcript": "ENST00000893541.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 347,
"aa_ref": "R",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3337,
"cdna_start": 758,
"cds_end": null,
"cds_length": 1044,
"cds_start": 728,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970312.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.728G>T",
"hgvs_p": "p.Arg243Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640371.1",
"strand": false,
"transcript": "ENST00000970312.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 331,
"aa_ref": "R",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2364,
"cdna_start": 808,
"cds_end": null,
"cds_length": 996,
"cds_start": 764,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000970313.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.764G>T",
"hgvs_p": "p.Arg255Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640372.1",
"strand": false,
"transcript": "ENST00000970313.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 324,
"aa_ref": "R",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 683,
"cds_end": null,
"cds_length": 975,
"cds_start": 659,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000970315.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.659G>T",
"hgvs_p": "p.Arg220Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640374.1",
"strand": false,
"transcript": "ENST00000970315.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 320,
"aa_ref": "R",
"aa_start": 244,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2314,
"cdna_start": 755,
"cds_end": null,
"cds_length": 963,
"cds_start": 731,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000920371.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.731G>T",
"hgvs_p": "p.Arg244Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590430.1",
"strand": false,
"transcript": "ENST00000920371.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 313,
"aa_ref": "R",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 663,
"cds_end": null,
"cds_length": 942,
"cds_start": 626,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893540.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.626G>T",
"hgvs_p": "p.Arg209Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563599.1",
"strand": false,
"transcript": "ENST00000893540.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 294,
"aa_ref": "R",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 593,
"cds_end": null,
"cds_length": 885,
"cds_start": 569,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893542.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.569G>T",
"hgvs_p": "p.Arg190Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563601.1",
"strand": false,
"transcript": "ENST00000893542.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2312,
"cdna_start": 669,
"cds_end": null,
"cds_length": 666,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322347.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.350G>T",
"hgvs_p": "p.Arg117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309276.1",
"strand": false,
"transcript": "NM_001322347.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 221,
"aa_ref": "R",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2512,
"cdna_start": 869,
"cds_end": null,
"cds_length": 666,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001322352.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.350G>T",
"hgvs_p": "p.Arg117Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309281.1",
"strand": false,
"transcript": "NM_001322352.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 214,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2348,
"cdna_start": 705,
"cds_end": null,
"cds_length": 645,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322346.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Arg110Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309275.1",
"strand": false,
"transcript": "NM_001322346.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 214,
"aa_ref": "R",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2362,
"cdna_start": 719,
"cds_end": null,
"cds_length": 645,
"cds_start": 329,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322354.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.329G>T",
"hgvs_p": "p.Arg110Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309283.1",
"strand": false,
"transcript": "NM_001322354.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 636,
"cds_end": null,
"cds_length": 633,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001322350.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309279.1",
"strand": false,
"transcript": "NM_001322350.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 553,
"cds_end": null,
"cds_length": 612,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001322351.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309280.1",
"strand": false,
"transcript": "NM_001322351.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2396,
"cdna_start": 753,
"cds_end": null,
"cds_length": 612,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001322355.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309284.1",
"strand": false,
"transcript": "NM_001322355.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 203,
"aa_ref": "R",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 672,
"cds_end": null,
"cds_length": 612,
"cds_start": 296,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001322356.2",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.296G>T",
"hgvs_p": "p.Arg99Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309285.1",
"strand": false,
"transcript": "NM_001322356.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 210,
"aa_ref": "R",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2239,
"cdna_start": 596,
"cds_end": null,
"cds_length": 633,
"cds_start": 317,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047445946.1",
"gene_hgnc_id": 19263,
"gene_symbol": "LMAN2L",
"hgvs_c": "c.317G>T",
"hgvs_p": "p.Arg106Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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