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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: 19-54355405-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=54355405&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LAIR1",
"hgnc_id": 6477,
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Ala243Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_002287.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1115,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.34,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.20255091786384583,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 854,
"cds_end": null,
"cds_length": 864,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_002287.6",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Ala243Pro",
"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": "P",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4875,
"cdna_start": 854,
"cds_end": null,
"cds_length": 864,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000391742.7",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Ala243Pro",
"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": "P",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 737,
"cds_end": null,
"cds_length": 813,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000348231.8",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Ala226Pro",
"intron_rank": null,
"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": "P",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 814,
"cdna_start": 676,
"cds_end": null,
"cds_length": 810,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000474878.5",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Ala225Pro",
"intron_rank": null,
"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": "P",
"aa_end": null,
"aa_length": 287,
"aa_ref": "A",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2523,
"cdna_start": 846,
"cds_end": null,
"cds_length": 864,
"cds_start": 727,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000881593.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.727G>C",
"hgvs_p": "p.Ala243Pro",
"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": "P",
"aa_end": null,
"aa_length": 286,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4872,
"cdna_start": 851,
"cds_end": null,
"cds_length": 861,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001289025.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Ala242Pro",
"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": "P",
"aa_end": null,
"aa_length": 286,
"aa_ref": "A",
"aa_start": 242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1645,
"cdna_start": 915,
"cds_end": null,
"cds_length": 861,
"cds_start": 724,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000434277.6",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.724G>C",
"hgvs_p": "p.Ala242Pro",
"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": "P",
"aa_end": null,
"aa_length": 280,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5008,
"cdna_start": 987,
"cds_end": null,
"cds_length": 843,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001289026.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.706G>C",
"hgvs_p": "p.Ala236Pro",
"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": "P",
"aa_end": null,
"aa_length": 277,
"aa_ref": "A",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": 782,
"cds_end": null,
"cds_length": 834,
"cds_start": 697,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000963904.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.697G>C",
"hgvs_p": "p.Ala233Pro",
"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": "P",
"aa_end": null,
"aa_length": 275,
"aa_ref": "A",
"aa_start": 231,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 901,
"cds_end": null,
"cds_length": 828,
"cds_start": 691,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963902.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.691G>C",
"hgvs_p": "p.Ala231Pro",
"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": "P",
"aa_end": null,
"aa_length": 274,
"aa_ref": "A",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2606,
"cdna_start": 825,
"cds_end": null,
"cds_length": 825,
"cds_start": 688,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000963903.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.688G>C",
"hgvs_p": "p.Ala230Pro",
"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": "P",
"aa_end": null,
"aa_length": 270,
"aa_ref": "A",
"aa_start": 226,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4824,
"cdna_start": 803,
"cds_end": null,
"cds_length": 813,
"cds_start": 676,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_021706.5",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.676G>C",
"hgvs_p": "p.Ala226Pro",
"intron_rank": null,
"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": "P",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4821,
"cdna_start": 800,
"cds_end": null,
"cds_length": 810,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001289023.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Ala225Pro",
"intron_rank": null,
"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": "P",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4975,
"cdna_start": 954,
"cds_end": null,
"cds_length": 810,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001289027.3",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Ala225Pro",
"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": "P",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2735,
"cdna_start": 954,
"cds_end": null,
"cds_length": 810,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000391743.7",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Ala225Pro",
"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": "P",
"aa_end": null,
"aa_length": 280,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6922,
"cdna_start": 2901,
"cds_end": null,
"cds_length": 843,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047438810.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.706G>C",
"hgvs_p": "p.Ala236Pro",
"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": "P",
"aa_end": null,
"aa_length": 280,
"aa_ref": "A",
"aa_start": 236,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5348,
"cdna_start": 1327,
"cds_end": null,
"cds_length": 843,
"cds_start": 706,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047438811.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.706G>C",
"hgvs_p": "p.Ala236Pro",
"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": "P",
"aa_end": null,
"aa_length": 269,
"aa_ref": "A",
"aa_start": 225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6889,
"cdna_start": 2868,
"cds_end": null,
"cds_length": 810,
"cds_start": 673,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047438812.1",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "c.673G>C",
"hgvs_p": "p.Ala225Pro",
"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": 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": 10,
"exon_rank_end": null,
"feature": "ENST00000391741.6",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "n.*249G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000375621.2",
"strand": false,
"transcript": "ENST00000391741.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1059,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000440716.5",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "n.1000G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000440716.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 956,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000467269.5",
"gene_hgnc_id": 6477,
"gene_symbol": "LAIR1",
"hgvs_c": "n.818G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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