← Back to variant description
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: 9-34637325-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=34637325&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 34637325,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000277010.9",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "NM_005866.4",
"protein_id": "NP_005857.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 223,
"cds_start": 247,
"cds_end": null,
"cds_length": 672,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "ENST00000277010.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "ENST00000277010.9",
"protein_id": "ENSP00000277010.4",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 223,
"cds_start": 247,
"cds_end": null,
"cds_length": 672,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "NM_005866.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "ENST00000477726.1",
"protein_id": "ENSP00000420022.1",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 192,
"cds_start": 247,
"cds_end": null,
"cds_length": 579,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 840,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.247T>C",
"hgvs_p": null,
"transcript": "ENST00000353468.4",
"protein_id": "ENSP00000434453.1",
"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": 1582,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.472T>C",
"hgvs_p": null,
"transcript": "ENST00000461426.1",
"protein_id": null,
"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": 939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.187T>C",
"hgvs_p": "p.Phe63Leu",
"transcript": "NM_001282207.2",
"protein_id": "NP_001269136.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 203,
"cds_start": 187,
"cds_end": null,
"cds_length": 612,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.187T>C",
"hgvs_p": "p.Phe63Leu",
"transcript": "ENST00000679597.1",
"protein_id": "ENSP00000505634.1",
"transcript_support_level": null,
"aa_start": 63,
"aa_end": null,
"aa_length": 203,
"cds_start": 187,
"cds_end": null,
"cds_length": 612,
"cdna_start": 277,
"cdna_end": null,
"cdna_length": 1612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "NM_147157.3",
"protein_id": "NP_671513.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 192,
"cds_start": 247,
"cds_end": null,
"cds_length": 579,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "NM_001282208.2",
"protein_id": "NP_001269137.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 159,
"cds_start": 247,
"cds_end": null,
"cds_length": 480,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "ENST00000680277.1",
"protein_id": "ENSP00000505742.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 159,
"cds_start": 247,
"cds_end": null,
"cds_length": 480,
"cdna_start": 334,
"cdna_end": null,
"cdna_length": 630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "NM_001282205.2",
"protein_id": "NP_001269134.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 155,
"cds_start": 247,
"cds_end": null,
"cds_length": 468,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "ENST00000680244.1",
"protein_id": "ENSP00000505305.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 155,
"cds_start": 247,
"cds_end": null,
"cds_length": 468,
"cdna_start": 343,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "NM_001282209.2",
"protein_id": "NP_001269138.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 110,
"cds_start": 247,
"cds_end": null,
"cds_length": 333,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu",
"transcript": "ENST00000680730.1",
"protein_id": "ENSP00000505588.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 110,
"cds_start": 247,
"cds_end": null,
"cds_length": 333,
"cdna_start": 359,
"cdna_end": null,
"cdna_length": 1457,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.88T>C",
"hgvs_p": null,
"transcript": "ENST00000478146.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 485,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.394T>C",
"hgvs_p": null,
"transcript": "ENST00000497006.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 1842,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.247T>C",
"hgvs_p": null,
"transcript": "ENST00000680104.1",
"protein_id": "ENSP00000505949.1",
"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": 2263,
"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": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.366T>C",
"hgvs_p": null,
"transcript": "ENST00000681409.1",
"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": 2878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.-21T>C",
"hgvs_p": null,
"transcript": "ENST00000378892.5",
"protein_id": "ENSP00000368170.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 134,
"cds_start": -4,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1743,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "c.-7T>C",
"hgvs_p": null,
"transcript": "NM_001282206.2",
"protein_id": "NP_001269135.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 123,
"cds_start": -4,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"hgvs_c": "n.329+8T>C",
"hgvs_p": null,
"transcript": "NR_104108.2",
"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": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SIGMAR1",
"gene_hgnc_id": 8157,
"dbsnp": "rs773344340",
"frequency_reference_population": 0.00001621714,
"hom_count_reference_population": 0,
"allele_count_reference_population": 26,
"gnomad_exomes_af": 0.0000172292,
"gnomad_genomes_af": 0.00000656944,
"gnomad_exomes_ac": 25,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8965402245521545,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.615,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9894,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.051,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000277010.9",
"gene_symbol": "SIGMAR1",
"hgnc_id": 8157,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Phe83Leu"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 16,Autosomal recessive distal spinal muscular atrophy 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 16;Autosomal recessive distal spinal muscular atrophy 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}