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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: 19-10317588-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=10317588&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 10317588,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_133452.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Gly696Ser",
"transcript": "NM_133452.3",
"protein_id": "NP_597709.3",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 739,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000617231.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_133452.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Gly696Ser",
"transcript": "ENST00000617231.5",
"protein_id": "ENSP00000482277.1",
"transcript_support_level": 5,
"aa_start": 696,
"aa_end": null,
"aa_length": 739,
"cds_start": 2086,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_133452.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617231.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267303",
"gene_hgnc_id": null,
"hgvs_c": "n.340G>A",
"hgvs_p": null,
"transcript": "ENST00000586529.1",
"protein_id": "ENSP00000467814.1",
"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": "ENST00000586529.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "n.3320G>A",
"hgvs_p": null,
"transcript": "ENST00000592208.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000592208.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2161G>A",
"hgvs_p": "p.Gly721Ser",
"transcript": "ENST00000910906.1",
"protein_id": "ENSP00000580965.1",
"transcript_support_level": null,
"aa_start": 721,
"aa_end": null,
"aa_length": 764,
"cds_start": 2161,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910906.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2128G>A",
"hgvs_p": "p.Gly710Ser",
"transcript": "ENST00000910904.1",
"protein_id": "ENSP00000580963.1",
"transcript_support_level": null,
"aa_start": 710,
"aa_end": null,
"aa_length": 753,
"cds_start": 2128,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910904.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2083G>A",
"hgvs_p": "p.Gly695Ser",
"transcript": "ENST00000910894.1",
"protein_id": "ENSP00000580954.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 738,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910894.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2083G>A",
"hgvs_p": "p.Gly695Ser",
"transcript": "ENST00000911330.1",
"protein_id": "ENSP00000581389.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 738,
"cds_start": 2083,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911330.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Gly691Ser",
"transcript": "ENST00000910898.1",
"protein_id": "ENSP00000580957.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 734,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2205,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910898.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.2011G>A",
"hgvs_p": "p.Gly671Ser",
"transcript": "NM_001366174.1",
"protein_id": "NP_001353103.1",
"transcript_support_level": null,
"aa_start": 671,
"aa_end": null,
"aa_length": 714,
"cds_start": 2011,
"cds_end": null,
"cds_length": 2145,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001366174.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1942G>A",
"hgvs_p": "p.Gly648Ser",
"transcript": "ENST00000910893.1",
"protein_id": "ENSP00000580951.1",
"transcript_support_level": null,
"aa_start": 648,
"aa_end": null,
"aa_length": 691,
"cds_start": 1942,
"cds_end": null,
"cds_length": 2076,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910893.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1939G>A",
"hgvs_p": "p.Gly647Ser",
"transcript": "ENST00000910905.1",
"protein_id": "ENSP00000580964.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 690,
"cds_start": 1939,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910905.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1894G>A",
"hgvs_p": "p.Gly632Ser",
"transcript": "ENST00000910901.1",
"protein_id": "ENSP00000580961.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 675,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2028,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910901.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1549G>A",
"hgvs_p": "p.Gly517Ser",
"transcript": "ENST00000910900.1",
"protein_id": "ENSP00000580958.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 560,
"cds_start": 1549,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910900.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1294G>A",
"hgvs_p": "p.Gly432Ser",
"transcript": "ENST00000911331.1",
"protein_id": "ENSP00000581390.1",
"transcript_support_level": null,
"aa_start": 432,
"aa_end": null,
"aa_length": 475,
"cds_start": 1294,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911331.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"hgvs_c": "c.1069G>A",
"hgvs_p": "p.Gly357Ser",
"transcript": "XM_047438143.1",
"protein_id": "XP_047294099.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 400,
"cds_start": 1069,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047438143.1"
}
],
"gene_symbol": "RAVER1",
"gene_hgnc_id": 30296,
"dbsnp": "rs375929079",
"frequency_reference_population": 0.00005468325,
"hom_count_reference_population": 0,
"allele_count_reference_population": 88,
"gnomad_exomes_af": 0.0000425477,
"gnomad_genomes_af": 0.000170963,
"gnomad_exomes_ac": 62,
"gnomad_genomes_ac": 26,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.056959569454193115,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.139,
"revel_prediction": "Benign",
"alphamissense_score": 0.1081,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.778,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_133452.3",
"gene_symbol": "RAVER1",
"hgnc_id": 30296,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2086G>A",
"hgvs_p": "p.Gly696Ser"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000586529.1",
"gene_symbol": "ENSG00000267303",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.340G>A",
"hgvs_p": null
}
],
"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
}