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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: 10-28069835-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28069835&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 28069835,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001318170.2",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "NM_001318170.2",
"protein_id": "NP_001305099.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "ENST00000683449.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "ENST00000683449.1",
"protein_id": "ENSP00000507917.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "NM_001318170.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "ENST00000375719.7",
"protein_id": "ENSP00000364871.3",
"transcript_support_level": 1,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.1141C>A",
"hgvs_p": null,
"transcript": "ENST00000496637.6",
"protein_id": "ENSP00000473899.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "NM_173496.5",
"protein_id": "NP_775767.2",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "ENST00000337532.9",
"protein_id": "ENSP00000337907.5",
"transcript_support_level": 5,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1418,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "ENST00000375732.5",
"protein_id": "ENSP00000364884.1",
"transcript_support_level": 2,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.424C>A",
"hgvs_p": "p.Leu142Met",
"transcript": "ENST00000441595.2",
"protein_id": "ENSP00000398319.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 311,
"cds_start": 424,
"cds_end": null,
"cds_length": 936,
"cdna_start": 698,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1384C>A",
"hgvs_p": "p.Leu462Met",
"transcript": "XM_017015741.2",
"protein_id": "XP_016871230.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 657,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2117,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "XM_011519337.3",
"protein_id": "XP_011517639.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1427,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "XM_047424644.1",
"protein_id": "XP_047280600.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1489,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "XM_047424645.1",
"protein_id": "XP_047280601.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1579,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "XM_047424646.1",
"protein_id": "XP_047280602.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1386,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met",
"transcript": "XM_047424647.1",
"protein_id": "XP_047280603.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 576,
"cds_start": 1141,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1135C>A",
"hgvs_p": "p.Leu379Met",
"transcript": "XM_047424648.1",
"protein_id": "XP_047280604.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 574,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1524,
"cdna_end": null,
"cdna_length": 5186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Leu256Met",
"transcript": "XM_011519338.3",
"protein_id": "XP_011517640.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 451,
"cds_start": 766,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.766C>A",
"hgvs_p": "p.Leu256Met",
"transcript": "XM_047424649.1",
"protein_id": "XP_047280605.1",
"transcript_support_level": null,
"aa_start": 256,
"aa_end": null,
"aa_length": 451,
"cds_start": 766,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1308,
"cdna_end": null,
"cdna_length": 4970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.1476C>A",
"hgvs_p": null,
"transcript": "NR_134517.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5272,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.1357C>A",
"hgvs_p": null,
"transcript": "NR_134518.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.2194C>A",
"hgvs_p": null,
"transcript": "XR_007061944.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"dbsnp": "rs556715750",
"frequency_reference_population": 0.000022308288,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000102626,
"gnomad_genomes_af": 0.000138038,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11526519060134888,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.203,
"revel_prediction": "Benign",
"alphamissense_score": 0.2542,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.42,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.666,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001318170.2",
"gene_symbol": "MPP7",
"hgnc_id": 26542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1141C>A",
"hgvs_p": "p.Leu381Met"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}