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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: 9-35685672-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=35685672&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 35685672,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000645482.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_003289.4",
"protein_id": "NP_003280.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": "ENST00000645482.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "ENST00000645482.3",
"protein_id": "ENSP00000496494.2",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": "NM_003289.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "ENST00000378292.9",
"protein_id": "ENSP00000367542.3",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_001301226.2",
"protein_id": "NP_001288155.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_001301227.2",
"protein_id": "NP_001288156.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "NM_213674.1",
"protein_id": "NP_998839.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "ENST00000329305.6",
"protein_id": "ENSP00000367541.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1018,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "ENST00000647435.1",
"protein_id": "ENSP00000495440.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 284,
"cds_start": 349,
"cds_end": null,
"cds_length": 855,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "XM_017015088.3",
"protein_id": "XP_016870577.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 303,
"cds_start": 349,
"cds_end": null,
"cds_length": 912,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 1210,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys",
"transcript": "XM_047423827.1",
"protein_id": "XP_047279783.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 213,
"cds_start": 349,
"cds_end": null,
"cds_length": 642,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 954,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.432G>A",
"hgvs_p": null,
"transcript": "ENST00000471212.5",
"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": 1363,
"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": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.235G>A",
"hgvs_p": null,
"transcript": "ENST00000604975.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 573,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.184G>A",
"hgvs_p": null,
"transcript": "ENST00000643485.1",
"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": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "c.-206G>A",
"hgvs_p": null,
"transcript": "ENST00000607559.1",
"protein_id": "ENSP00000475952.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": -4,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 518,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"hgvs_c": "n.-129G>A",
"hgvs_p": null,
"transcript": "ENST00000486018.1",
"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": 699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TPM2",
"gene_hgnc_id": 12011,
"dbsnp": "rs104894129",
"frequency_reference_population": 0.0000065696117,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656961,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9418936967849731,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.914,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9488,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.166,
"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": 15,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 15,
"benign_score": 0,
"pathogenic_score": 15,
"criteria": [
"PM2",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000645482.3",
"gene_symbol": "TPM2",
"hgnc_id": 12011,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.349G>A",
"hgvs_p": "p.Glu117Lys"
}
],
"clinvar_disease": " distal, type 1A,Arthrogryposis,Congenital myopathy 23,Inborn genetic diseases,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:1 O:2",
"phenotype_combined": "Congenital myopathy 23|not provided|Arthrogryposis, distal, type 1A|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}