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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: 21-31667271-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31667271&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31667271,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_000454.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.253T>C",
"hgvs_p": "p.Leu85Leu",
"transcript": "NM_000454.5",
"protein_id": "NP_000445.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 154,
"cds_start": 253,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000270142.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000454.5"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.253T>C",
"hgvs_p": "p.Leu85Leu",
"transcript": "ENST00000270142.11",
"protein_id": "ENSP00000270142.7",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 154,
"cds_start": 253,
"cds_end": null,
"cds_length": 465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000454.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000270142.11"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.391T>C",
"hgvs_p": "p.Leu131Leu",
"transcript": "ENST00000877332.1",
"protein_id": "ENSP00000547391.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 200,
"cds_start": 391,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877332.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.316T>C",
"hgvs_p": "p.Leu106Leu",
"transcript": "ENST00000877328.1",
"protein_id": "ENSP00000547387.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 175,
"cds_start": 316,
"cds_end": null,
"cds_length": 528,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877328.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.283T>C",
"hgvs_p": "p.Leu95Leu",
"transcript": "ENST00000877331.1",
"protein_id": "ENSP00000547390.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 164,
"cds_start": 283,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877331.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.253T>C",
"hgvs_p": "p.Leu85Leu",
"transcript": "ENST00000877330.1",
"protein_id": "ENSP00000547389.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 153,
"cds_start": 253,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877330.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.247T>C",
"hgvs_p": "p.Leu83Leu",
"transcript": "ENST00000928717.1",
"protein_id": "ENSP00000598776.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 152,
"cds_start": 247,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928717.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.238T>C",
"hgvs_p": "p.Leu80Leu",
"transcript": "ENST00000928718.1",
"protein_id": "ENSP00000598777.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 149,
"cds_start": 238,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928718.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.196T>C",
"hgvs_p": "p.Leu66Leu",
"transcript": "ENST00000389995.4",
"protein_id": "ENSP00000374645.4",
"transcript_support_level": 3,
"aa_start": 66,
"aa_end": null,
"aa_length": 135,
"cds_start": 196,
"cds_end": null,
"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389995.4"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.193T>C",
"hgvs_p": "p.Leu65Leu",
"transcript": "ENST00000877329.1",
"protein_id": "ENSP00000547388.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 134,
"cds_start": 193,
"cds_end": null,
"cds_length": 405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877329.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.193T>C",
"hgvs_p": "p.Leu65Leu",
"transcript": "ENST00000928720.1",
"protein_id": "ENSP00000598779.1",
"transcript_support_level": null,
"aa_start": 65,
"aa_end": null,
"aa_length": 133,
"cds_start": 193,
"cds_end": null,
"cds_length": 402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928720.1"
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.31T>C",
"hgvs_p": "p.Leu11Leu",
"transcript": "ENST00000928721.1",
"protein_id": "ENSP00000598780.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 80,
"cds_start": 31,
"cds_end": null,
"cds_length": 243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928721.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.142-1200T>C",
"hgvs_p": null,
"transcript": "ENST00000928719.1",
"protein_id": "ENSP00000598778.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 82,
"cds_start": null,
"cds_end": null,
"cds_length": 249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928719.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "n.1181T>C",
"hgvs_p": null,
"transcript": "ENST00000470944.1",
"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": "ENST00000470944.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "n.516T>C",
"hgvs_p": null,
"transcript": "ENST00000476106.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000476106.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000273271",
"gene_hgnc_id": null,
"hgvs_c": "n.-24A>G",
"hgvs_p": null,
"transcript": "ENST00000609934.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000609934.1"
}
],
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"dbsnp": "rs121912452",
"frequency_reference_population": 0.0000018590747,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.84234e-7,
"gnomad_genomes_af": 0.0000131391,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.717,
"phylop100way_prediction": "Uncertain_significance",
"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": -10,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Very_Strong",
"acmg_by_gene": [
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "NM_000454.5",
"gene_symbol": "SOD1",
"hgnc_id": 11179,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.253T>C",
"hgvs_p": "p.Leu85Leu"
},
{
"score": -10,
"benign_score": 12,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "ENST00000609934.1",
"gene_symbol": "ENSG00000273271",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-24A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 1,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not provided|Amyotrophic lateral sclerosis type 1",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}