← 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: 20-38525910-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38525910&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38525910,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000262879.11",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "NM_020336.4",
"protein_id": "NP_065069.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": "ENST00000262879.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "ENST00000262879.11",
"protein_id": "ENSP00000262879.6",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 8633,
"mane_select": "NM_020336.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "ENST00000397040.5",
"protein_id": "ENSP00000380233.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 8435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "ENST00000397042.7",
"protein_id": "ENSP00000380235.3",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 1491,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4476,
"cdna_start": 2202,
"cdna_end": null,
"cdna_length": 8652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "NM_001282917.2",
"protein_id": "NP_001269846.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1494,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4485,
"cdna_start": 2033,
"cdna_end": null,
"cdna_length": 8491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "NM_001282918.2",
"protein_id": "NP_001269847.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1491,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4476,
"cdna_start": 2175,
"cdna_end": null,
"cdna_length": 8624,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1402A>G",
"hgvs_p": "p.Lys468Glu",
"transcript": "ENST00000438490.2",
"protein_id": "ENSP00000416646.1",
"transcript_support_level": 5,
"aa_start": 468,
"aa_end": null,
"aa_length": 1323,
"cds_start": 1402,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 1402,
"cdna_end": null,
"cdna_length": 4075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.19A>G",
"hgvs_p": "p.Lys7Glu",
"transcript": "ENST00000632792.1",
"protein_id": "ENSP00000487816.1",
"transcript_support_level": 5,
"aa_start": 7,
"aa_end": null,
"aa_length": 865,
"cds_start": 19,
"cds_end": null,
"cds_length": 2598,
"cdna_start": 20,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Lys652Glu",
"transcript": "XM_005260462.4",
"protein_id": "XP_005260519.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1507,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4524,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 8445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Lys652Glu",
"transcript": "XM_047440314.1",
"protein_id": "XP_047296270.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1506,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4521,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 8442,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Lys652Glu",
"transcript": "XM_047440315.1",
"protein_id": "XP_047296271.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1503,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4512,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 8433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Lys652Glu",
"transcript": "XM_017027966.3",
"protein_id": "XP_016883455.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1502,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4509,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 8430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "XM_005260465.4",
"protein_id": "XP_005260522.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1495,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4488,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 8409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "XM_017027967.3",
"protein_id": "XP_016883456.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 1490,
"cds_start": 1918,
"cds_end": null,
"cds_length": 4473,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 8394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1600A>G",
"hgvs_p": "p.Lys534Glu",
"transcript": "XM_017027968.3",
"protein_id": "XP_016883457.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1389,
"cds_start": 1600,
"cds_end": null,
"cds_length": 4170,
"cdna_start": 1722,
"cdna_end": null,
"cdna_length": 8183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "c.1954A>G",
"hgvs_p": "p.Lys652Glu",
"transcript": "XM_047440316.1",
"protein_id": "XP_047296272.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 1335,
"cds_start": 1954,
"cds_end": null,
"cds_length": 4008,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"hgvs_c": "n.1170A>G",
"hgvs_p": null,
"transcript": "ENST00000461423.1",
"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": 3830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RALGAPB",
"gene_hgnc_id": 29221,
"dbsnp": "rs546763036",
"frequency_reference_population": 0.0000062027198,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000410999,
"gnomad_genomes_af": 0.0000262574,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2352844774723053,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.398,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6602,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.3,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.942,
"phylop100way_prediction": "Pathogenic",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262879.11",
"gene_symbol": "RALGAPB",
"hgnc_id": 29221,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}