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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: 15-64751572-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64751572&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 64751572,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194272.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "NM_194272.3",
"protein_id": "NP_919248.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 209,
"cds_start": 154,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000300069.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194272.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000300069.5",
"protein_id": "ENSP00000300069.4",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 209,
"cds_start": 154,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_194272.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000300069.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.-180C>T",
"hgvs_p": null,
"transcript": "ENST00000560606.5",
"protein_id": "ENSP00000456720.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560606.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000890183.1",
"protein_id": "ENSP00000560242.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 209,
"cds_start": 154,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890183.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000890184.1",
"protein_id": "ENSP00000560243.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 209,
"cds_start": 154,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890184.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000890185.1",
"protein_id": "ENSP00000560244.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 209,
"cds_start": 154,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890185.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000890186.1",
"protein_id": "ENSP00000560245.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 209,
"cds_start": 154,
"cds_end": null,
"cds_length": 630,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890186.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp",
"transcript": "ENST00000930201.1",
"protein_id": "ENSP00000600260.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 75,
"cds_start": 154,
"cds_end": null,
"cds_length": 228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930201.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.70C>T",
"hgvs_p": "p.Arg24Trp",
"transcript": "XM_047432446.1",
"protein_id": "XP_047288402.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 181,
"cds_start": 70,
"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": "XM_047432446.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "c.-180C>T",
"hgvs_p": null,
"transcript": "ENST00000560606.5",
"protein_id": "ENSP00000456720.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560606.5"
},
{
"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": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "n.424C>T",
"hgvs_p": null,
"transcript": "NR_138350.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_138350.2"
},
{
"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": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "n.155C>T",
"hgvs_p": null,
"transcript": "NR_138363.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_138363.2"
},
{
"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": "RBPMS2",
"gene_hgnc_id": 19098,
"hgvs_c": "n.154C>T",
"hgvs_p": null,
"transcript": "NR_138364.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_138364.2"
}
],
"gene_symbol": "RBPMS2",
"gene_hgnc_id": 19098,
"dbsnp": "rs150042844",
"frequency_reference_population": 0.000022307293,
"hom_count_reference_population": 0,
"allele_count_reference_population": 36,
"gnomad_exomes_af": 0.0000218926,
"gnomad_genomes_af": 0.0000262912,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.956824541091919,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.422,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9857,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.231,
"phylop100way_prediction": "Benign",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_194272.3",
"gene_symbol": "RBPMS2",
"hgnc_id": 19098,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.154C>T",
"hgvs_p": "p.Arg52Trp"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}