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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: 10-28054091-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=28054091&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 28054091,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001318170.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "NM_001318170.2",
"protein_id": "NP_001305099.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "ENST00000683449.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "ENST00000683449.1",
"protein_id": "ENSP00000507917.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2040,
"cdna_end": null,
"cdna_length": 5138,
"mane_select": "NM_001318170.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "ENST00000375719.7",
"protein_id": "ENSP00000364871.3",
"transcript_support_level": 1,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2060,
"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": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.*474G>T",
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.*474G>T",
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "NM_173496.5",
"protein_id": "NP_775767.2",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2094,
"cdna_end": null,
"cdna_length": 5192,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "ENST00000337532.9",
"protein_id": "ENSP00000337907.5",
"transcript_support_level": 5,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1982,
"cdna_end": null,
"cdna_length": 5080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "ENST00000375732.5",
"protein_id": "ENSP00000364884.1",
"transcript_support_level": 2,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1965,
"cdna_end": null,
"cdna_length": 5063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1948G>T",
"hgvs_p": "p.Val650Leu",
"transcript": "XM_017015741.2",
"protein_id": "XP_016871230.1",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 657,
"cds_start": 1948,
"cds_end": null,
"cds_length": 1974,
"cdna_start": 2681,
"cdna_end": null,
"cdna_length": 5779,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "XM_011519337.3",
"protein_id": "XP_011517639.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1991,
"cdna_end": null,
"cdna_length": 5089,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "XM_047424644.1",
"protein_id": "XP_047280600.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2053,
"cdna_end": null,
"cdna_length": 5151,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "XM_047424645.1",
"protein_id": "XP_047280601.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "XM_047424646.1",
"protein_id": "XP_047280602.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu",
"transcript": "XM_047424647.1",
"protein_id": "XP_047280603.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 576,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1731,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 5268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1699G>T",
"hgvs_p": "p.Val567Leu",
"transcript": "XM_047424648.1",
"protein_id": "XP_047280604.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 574,
"cds_start": 1699,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 5186,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Val444Leu",
"transcript": "XM_011519338.3",
"protein_id": "XP_011517640.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 451,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1921,
"cdna_end": null,
"cdna_length": 5019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.1330G>T",
"hgvs_p": "p.Val444Leu",
"transcript": "XM_047424649.1",
"protein_id": "XP_047280605.1",
"transcript_support_level": null,
"aa_start": 444,
"aa_end": null,
"aa_length": 451,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1872,
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.2174G>T",
"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": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "n.2125G>T",
"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": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"hgvs_c": "c.*52G>T",
"hgvs_p": null,
"transcript": "ENST00000441595.2",
"protein_id": "ENSP00000398319.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": -4,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MPP7",
"gene_hgnc_id": 26542,
"dbsnp": "rs1851455212",
"frequency_reference_population": 0.000006197223,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000615819,
"gnomad_genomes_af": 0.00000657212,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.33716297149658203,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.193,
"revel_prediction": "Benign",
"alphamissense_score": 0.3649,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.692,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001318170.2",
"gene_symbol": "MPP7",
"hgnc_id": 26542,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1705G>T",
"hgvs_p": "p.Val569Leu"
}
],
"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
}