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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: 17-4945973-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=4945973&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 4945973,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005022.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "NM_005022.4",
"protein_id": "NP_005013.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000225655.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005022.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000225655.6",
"protein_id": "ENSP00000225655.5",
"transcript_support_level": 1,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005022.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000225655.6"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000896490.1",
"protein_id": "ENSP00000566549.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896490.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000896491.1",
"protein_id": "ENSP00000566550.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896491.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000896492.1",
"protein_id": "ENSP00000566551.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896492.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000896493.1",
"protein_id": "ENSP00000566552.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896493.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly",
"transcript": "ENST00000929512.1",
"protein_id": "ENSP00000599571.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 140,
"cds_start": 350,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929512.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.338A>G",
"hgvs_p": "p.Glu113Gly",
"transcript": "ENST00000929513.1",
"protein_id": "ENSP00000599572.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 136,
"cds_start": 338,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929513.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.275A>G",
"hgvs_p": "p.Glu92Gly",
"transcript": "ENST00000929514.1",
"protein_id": "ENSP00000599573.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 115,
"cds_start": 275,
"cds_end": null,
"cds_length": 348,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929514.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Glu81Gly",
"transcript": "ENST00000574872.1",
"protein_id": "ENSP00000465019.1",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 104,
"cds_start": 242,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000574872.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.242A>G",
"hgvs_p": "p.Glu81Gly",
"transcript": "ENST00000896494.1",
"protein_id": "ENSP00000566553.1",
"transcript_support_level": null,
"aa_start": 81,
"aa_end": null,
"aa_length": 104,
"cds_start": 242,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896494.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"hgvs_c": "c.*434A>G",
"hgvs_p": null,
"transcript": "NM_001375991.1",
"protein_id": "NP_001362920.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375991.1"
}
],
"gene_symbol": "PFN1",
"gene_hgnc_id": 8881,
"dbsnp": "rs140547520",
"frequency_reference_population": 0.0010904173,
"hom_count_reference_population": 1,
"allele_count_reference_population": 1759,
"gnomad_exomes_af": 0.00114512,
"gnomad_genomes_af": 0.000565172,
"gnomad_exomes_ac": 1673,
"gnomad_genomes_ac": 86,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1475328803062439,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.402,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8396,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.567,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM1,BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 7,
"pathogenic_score": 2,
"criteria": [
"PM1",
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_005022.4",
"gene_symbol": "PFN1",
"hgnc_id": 8881,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Glu117Gly"
}
],
"clinvar_disease": "Amyotrophic lateral sclerosis type 18,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "Amyotrophic lateral sclerosis type 18|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}