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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: 1-150511148-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150511148&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150511148,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001202858.2",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Cys220Gly",
"transcript": "NM_004425.4",
"protein_id": "NP_004416.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 540,
"cds_start": 658,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000369047.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004425.4"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Cys220Gly",
"transcript": "ENST00000369047.9",
"protein_id": "ENSP00000358043.4",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 540,
"cds_start": 658,
"cds_end": null,
"cds_length": 1623,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004425.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369047.9"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Cys220Gly",
"transcript": "ENST00000346569.6",
"protein_id": "ENSP00000271630.6",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 415,
"cds_start": 658,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346569.6"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.745T>G",
"hgvs_p": "p.Cys249Gly",
"transcript": "ENST00000855847.1",
"protein_id": "ENSP00000525906.1",
"transcript_support_level": null,
"aa_start": 249,
"aa_end": null,
"aa_length": 569,
"cds_start": 745,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855847.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.739T>G",
"hgvs_p": "p.Cys247Gly",
"transcript": "NM_001202858.2",
"protein_id": "NP_001189787.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 567,
"cds_start": 739,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001202858.2"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.739T>G",
"hgvs_p": "p.Cys247Gly",
"transcript": "ENST00000369049.8",
"protein_id": "ENSP00000358045.4",
"transcript_support_level": 2,
"aa_start": 247,
"aa_end": null,
"aa_length": 567,
"cds_start": 739,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369049.8"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.646T>G",
"hgvs_p": "p.Cys216Gly",
"transcript": "ENST00000855850.1",
"protein_id": "ENSP00000525909.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 536,
"cds_start": 646,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855850.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.643T>G",
"hgvs_p": "p.Cys215Gly",
"transcript": "ENST00000855851.1",
"protein_id": "ENSP00000525910.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 535,
"cds_start": 643,
"cds_end": null,
"cds_length": 1608,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855851.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.577T>G",
"hgvs_p": "p.Cys193Gly",
"transcript": "ENST00000855848.1",
"protein_id": "ENSP00000525907.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 513,
"cds_start": 577,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855848.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.577T>G",
"hgvs_p": "p.Cys193Gly",
"transcript": "ENST00000945726.1",
"protein_id": "ENSP00000615785.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 513,
"cds_start": 577,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945726.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.475T>G",
"hgvs_p": "p.Cys159Gly",
"transcript": "ENST00000855845.1",
"protein_id": "ENSP00000525904.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 479,
"cds_start": 475,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855845.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Cys220Gly",
"transcript": "ENST00000855846.1",
"protein_id": "ENSP00000525905.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 466,
"cds_start": 658,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855846.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.394T>G",
"hgvs_p": "p.Cys132Gly",
"transcript": "ENST00000855849.1",
"protein_id": "ENSP00000525908.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 452,
"cds_start": 394,
"cds_end": null,
"cds_length": 1359,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000855849.1"
},
{
"aa_ref": "C",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "c.658T>G",
"hgvs_p": "p.Cys220Gly",
"transcript": "NM_022664.3",
"protein_id": "NP_073155.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 415,
"cds_start": 658,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022664.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "n.1757T>G",
"hgvs_p": null,
"transcript": "ENST00000470432.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000470432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307101",
"gene_hgnc_id": null,
"hgvs_c": "n.286-533A>C",
"hgvs_p": null,
"transcript": "ENST00000823869.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000823869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307101",
"gene_hgnc_id": null,
"hgvs_c": "n.305-794A>C",
"hgvs_p": null,
"transcript": "ENST00000823870.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000823870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000307101",
"gene_hgnc_id": null,
"hgvs_c": "n.120-794A>C",
"hgvs_p": null,
"transcript": "ENST00000823872.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000823872.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"hgvs_c": "n.*2T>G",
"hgvs_p": null,
"transcript": "ENST00000498579.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000498579.5"
}
],
"gene_symbol": "ECM1",
"gene_hgnc_id": 3153,
"dbsnp": "rs869025566",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9925012588500977,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.9,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8131,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.42,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.825,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001202858.2",
"gene_symbol": "ECM1",
"hgnc_id": 3153,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.739T>G",
"hgvs_p": "p.Cys247Gly"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000823869.1",
"gene_symbol": "ENSG00000307101",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.286-533A>C",
"hgvs_p": null
}
],
"clinvar_disease": "Lipid proteinosis",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Lipid proteinosis",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}