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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: 21-31666496-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=31666496&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 31666496,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_000454.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Gly73Cys",
"transcript": "NM_000454.5",
"protein_id": "NP_000445.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 154,
"cds_start": 217,
"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": "G",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Gly73Cys",
"transcript": "ENST00000270142.11",
"protein_id": "ENSP00000270142.7",
"transcript_support_level": 1,
"aa_start": 73,
"aa_end": null,
"aa_length": 154,
"cds_start": 217,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.355G>T",
"hgvs_p": "p.Gly119Cys",
"transcript": "ENST00000877332.1",
"protein_id": "ENSP00000547391.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 200,
"cds_start": 355,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.280G>T",
"hgvs_p": "p.Gly94Cys",
"transcript": "ENST00000877328.1",
"protein_id": "ENSP00000547387.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 175,
"cds_start": 280,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.247G>T",
"hgvs_p": "p.Gly83Cys",
"transcript": "ENST00000877331.1",
"protein_id": "ENSP00000547390.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 164,
"cds_start": 247,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Gly73Cys",
"transcript": "ENST00000877330.1",
"protein_id": "ENSP00000547389.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 153,
"cds_start": 217,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.211G>T",
"hgvs_p": "p.Gly71Cys",
"transcript": "ENST00000928717.1",
"protein_id": "ENSP00000598776.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 152,
"cds_start": 211,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.202G>T",
"hgvs_p": "p.Gly68Cys",
"transcript": "ENST00000928718.1",
"protein_id": "ENSP00000598777.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 149,
"cds_start": 202,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.160G>T",
"hgvs_p": "p.Gly54Cys",
"transcript": "ENST00000389995.4",
"protein_id": "ENSP00000374645.4",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 135,
"cds_start": 160,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.157G>T",
"hgvs_p": "p.Gly53Cys",
"transcript": "ENST00000877329.1",
"protein_id": "ENSP00000547388.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 134,
"cds_start": 157,
"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": "G",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.157G>T",
"hgvs_p": "p.Gly53Cys",
"transcript": "ENST00000928720.1",
"protein_id": "ENSP00000598779.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 133,
"cds_start": 157,
"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": 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.142-1975G>T",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "c.18-762G>T",
"hgvs_p": null,
"transcript": "ENST00000928721.1",
"protein_id": "ENSP00000598780.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 80,
"cds_start": null,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SOD1",
"gene_hgnc_id": 11179,
"hgvs_c": "n.1145G>T",
"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": 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.480G>T",
"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": [
"downstream_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.*232C>A",
"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": "rs121912455",
"frequency_reference_population": 0.000015064572,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000150646,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9859044551849365,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.948,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8141,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.62,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.014,
"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": 9,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM5,PP2,PP3_Strong",
"acmg_by_gene": [
{
"score": 9,
"benign_score": 0,
"pathogenic_score": 9,
"criteria": [
"PM1",
"PM5",
"PP2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_000454.5",
"gene_symbol": "SOD1",
"hgnc_id": 11179,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.217G>T",
"hgvs_p": "p.Gly73Cys"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000609934.1",
"gene_symbol": "ENSG00000273271",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*232C>A",
"hgvs_p": null
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 1",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}