← 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: 6-110989049-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=110989049&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 110989049,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032194.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "NM_032194.3",
"protein_id": "NP_115570.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 306,
"cds_start": 178,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000441448.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032194.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "ENST00000441448.7",
"protein_id": "ENSP00000402338.2",
"transcript_support_level": 1,
"aa_start": 60,
"aa_end": null,
"aa_length": 306,
"cds_start": 178,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032194.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000441448.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "n.157-2698G>A",
"hgvs_p": null,
"transcript": "ENST00000607388.1",
"protein_id": "ENSP00000476081.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000607388.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "ENST00000885104.1",
"protein_id": "ENSP00000555163.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 340,
"cds_start": 178,
"cds_end": null,
"cds_length": 1023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885104.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "ENST00000885102.1",
"protein_id": "ENSP00000555161.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 338,
"cds_start": 178,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885102.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "ENST00000923612.1",
"protein_id": "ENSP00000593671.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 287,
"cds_start": 178,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923612.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser",
"transcript": "ENST00000885103.1",
"protein_id": "ENSP00000555162.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 253,
"cds_start": 178,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885103.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.79G>A",
"hgvs_p": "p.Gly27Ser",
"transcript": "ENST00000425871.1",
"protein_id": "ENSP00000414026.1",
"transcript_support_level": 5,
"aa_start": 27,
"aa_end": null,
"aa_length": 213,
"cds_start": 79,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425871.1"
},
{
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.156+3911G>A",
"hgvs_p": null,
"transcript": "ENST00000923615.1",
"protein_id": "ENSP00000593674.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 280,
"cds_start": null,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923615.1"
},
{
"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": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.24-2698G>A",
"hgvs_p": null,
"transcript": "ENST00000923613.1",
"protein_id": "ENSP00000593672.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923613.1"
},
{
"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": 9,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.6-2698G>A",
"hgvs_p": null,
"transcript": "NM_001289111.2",
"protein_id": "NP_001276040.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 243,
"cds_start": null,
"cds_end": null,
"cds_length": 732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289111.2"
},
{
"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": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "c.23+6920G>A",
"hgvs_p": null,
"transcript": "ENST00000923614.1",
"protein_id": "ENSP00000593673.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 115,
"cds_start": null,
"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": "ENST00000923614.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"hgvs_c": "n.218G>A",
"hgvs_p": null,
"transcript": "ENST00000368864.8",
"protein_id": "ENSP00000357857.5",
"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": "nonsense_mediated_decay",
"feature": "ENST00000368864.8"
}
],
"gene_symbol": "RPF2",
"gene_hgnc_id": 20870,
"dbsnp": "rs6909298",
"frequency_reference_population": 0.003757521,
"hom_count_reference_population": 189,
"allele_count_reference_population": 5944,
"gnomad_exomes_af": 0.00189956,
"gnomad_genomes_af": 0.0212243,
"gnomad_exomes_ac": 2716,
"gnomad_genomes_ac": 3228,
"gnomad_exomes_homalt": 98,
"gnomad_genomes_homalt": 91,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.002435356378555298,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.078,
"revel_prediction": "Benign",
"alphamissense_score": 0.1253,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.771,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.12,
"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": -14,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BA1",
"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_032194.3",
"gene_symbol": "RPF2",
"hgnc_id": 20870,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.178G>A",
"hgvs_p": "p.Gly60Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}