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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: 19-54360051-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54360051&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LAIR1",
"hgnc_id": 6477,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ser129Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_002287.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": 0.1086,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09764543175697327,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 513,
"cds_end": null,
"cds_length": 864,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_002287.6",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ser129Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000391742.7",
"protein_coding": true,
"protein_id": "NP_002278.2",
"strand": false,
"transcript": "NM_002287.6",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 513,
"cds_end": null,
"cds_length": 864,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000391742.7",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ser129Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002287.6",
"protein_coding": true,
"protein_id": "ENSP00000375622.2",
"strand": false,
"transcript": "ENST00000391742.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": null,
"cds_end": null,
"cds_length": 813,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000348231.8",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.364+865C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000301193.4",
"strand": false,
"transcript": "ENST00000348231.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000474878.5",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.361+865C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418998.1",
"strand": false,
"transcript": "ENST00000474878.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 287,
"aa_ref": "S",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 505,
"cds_end": null,
"cds_length": 864,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000881593.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ser129Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551652.1",
"strand": false,
"transcript": "ENST00000881593.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 286,
"aa_ref": "S",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 510,
"cds_end": null,
"cds_length": 861,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001289025.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275954.2",
"strand": false,
"transcript": "NM_001289025.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 286,
"aa_ref": "S",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 574,
"cds_end": null,
"cds_length": 861,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000434277.6",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.383C>T",
"hgvs_p": "p.Ser128Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391003.2",
"strand": false,
"transcript": "ENST00000434277.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 280,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 646,
"cds_end": null,
"cds_length": 843,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001289026.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275955.2",
"strand": false,
"transcript": "NM_001289026.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 277,
"aa_ref": "S",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 441,
"cds_end": null,
"cds_length": 834,
"cds_start": 356,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000963904.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ser119Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633963.1",
"strand": false,
"transcript": "ENST00000963904.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 275,
"aa_ref": "S",
"aa_start": 117,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 560,
"cds_end": null,
"cds_length": 828,
"cds_start": 350,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963902.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.350C>T",
"hgvs_p": "p.Ser117Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633961.1",
"strand": false,
"transcript": "ENST00000963902.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 274,
"aa_ref": "S",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 484,
"cds_end": null,
"cds_length": 825,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000963903.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.347C>T",
"hgvs_p": "p.Ser116Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633962.1",
"strand": false,
"transcript": "ENST00000963903.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 269,
"aa_ref": "S",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 613,
"cds_end": null,
"cds_length": 810,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001289027.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ser111Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275956.2",
"strand": false,
"transcript": "NM_001289027.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 269,
"aa_ref": "S",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 613,
"cds_end": null,
"cds_length": 810,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000391743.7",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ser111Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375623.3",
"strand": false,
"transcript": "ENST00000391743.7",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 79,
"aa_ref": "S",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": 56,
"cds_end": null,
"cds_length": 240,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000622064.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.56C>T",
"hgvs_p": "p.Ser19Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000483867.1",
"strand": false,
"transcript": "ENST00000622064.1",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 280,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6922,
"cdna_start": 2560,
"cds_end": null,
"cds_length": 843,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047438810.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294766.1",
"strand": false,
"transcript": "XM_047438810.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 280,
"aa_ref": "S",
"aa_start": 122,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 986,
"cds_end": null,
"cds_length": 843,
"cds_start": 365,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047438811.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.365C>T",
"hgvs_p": "p.Ser122Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294767.1",
"strand": false,
"transcript": "XM_047438811.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 269,
"aa_ref": "S",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6889,
"cdna_start": 2527,
"cds_end": null,
"cds_length": 810,
"cds_start": 332,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047438812.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.332C>T",
"hgvs_p": "p.Ser111Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047294768.1",
"strand": false,
"transcript": "XM_047438812.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 189,
"aa_ref": "S",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 832,
"cdna_start": 513,
"cds_end": null,
"cds_length": 570,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017026803.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Ser129Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882292.1",
"strand": false,
"transcript": "XM_017026803.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 270,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": null,
"cds_end": null,
"cds_length": 813,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021706.5",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.364+865C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_068352.2",
"strand": false,
"transcript": "NM_021706.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001289023.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.361+865C>T",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275952.2",
"strand": false,
"transcript": "NM_001289023.3",
"transcript_support_level": null
},
{
"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": 846,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000391741.6",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "n.292C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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