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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: 15-78998145-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78998145&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78998145,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002891.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Asp973His",
"transcript": "NM_001145648.3",
"protein_id": "NP_001139120.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000558480.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145648.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Asp973His",
"transcript": "ENST00000558480.7",
"protein_id": "ENSP00000452781.2",
"transcript_support_level": 2,
"aa_start": 973,
"aa_end": null,
"aa_length": 1257,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001145648.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558480.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Asp205His",
"transcript": "ENST00000394745.3",
"protein_id": "ENSP00000378228.3",
"transcript_support_level": 1,
"aa_start": 205,
"aa_end": null,
"aa_length": 489,
"cds_start": 613,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394745.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "n.2787G>C",
"hgvs_p": null,
"transcript": "ENST00000560334.5",
"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": "pseudogene",
"feature": "ENST00000560334.5"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Asp989His",
"transcript": "NM_002891.6",
"protein_id": "NP_002882.3",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002891.6"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Asp989His",
"transcript": "ENST00000419573.7",
"protein_id": "ENSP00000405963.3",
"transcript_support_level": 2,
"aa_start": 989,
"aa_end": null,
"aa_length": 1273,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3822,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419573.7"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Asp205His",
"transcript": "NM_153815.3",
"protein_id": "NP_722522.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 489,
"cds_start": 613,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153815.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2956G>C",
"hgvs_p": "p.Asp986His",
"transcript": "XM_017022455.3",
"protein_id": "XP_016877944.1",
"transcript_support_level": null,
"aa_start": 986,
"aa_end": null,
"aa_length": 1270,
"cds_start": 2956,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022455.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Asp989His",
"transcript": "XM_011521866.4",
"protein_id": "XP_011520168.1",
"transcript_support_level": null,
"aa_start": 989,
"aa_end": null,
"aa_length": 1261,
"cds_start": 2965,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521866.4"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2926G>C",
"hgvs_p": "p.Asp976His",
"transcript": "XM_017022456.3",
"protein_id": "XP_016877945.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1260,
"cds_start": 2926,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022456.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2926G>C",
"hgvs_p": "p.Asp976His",
"transcript": "XM_017022457.3",
"protein_id": "XP_016877946.1",
"transcript_support_level": null,
"aa_start": 976,
"aa_end": null,
"aa_length": 1248,
"cds_start": 2926,
"cds_end": null,
"cds_length": 3747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022457.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.2917G>C",
"hgvs_p": "p.Asp973His",
"transcript": "XM_017022458.3",
"protein_id": "XP_016877947.1",
"transcript_support_level": null,
"aa_start": 973,
"aa_end": null,
"aa_length": 1245,
"cds_start": 2917,
"cds_end": null,
"cds_length": 3738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017022458.3"
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.613G>C",
"hgvs_p": "p.Asp205His",
"transcript": "XM_047432926.1",
"protein_id": "XP_047288882.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 489,
"cds_start": 613,
"cds_end": null,
"cds_length": 1470,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047432926.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "n.122G>C",
"hgvs_p": null,
"transcript": "ENST00000560943.5",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000560943.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "n.-74G>C",
"hgvs_p": null,
"transcript": "ENST00000561112.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000561112.1"
}
],
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"dbsnp": "rs779564323",
"frequency_reference_population": 0.000013681331,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000136813,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29252853989601135,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.235,
"revel_prediction": "Benign",
"alphamissense_score": 0.7783,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.809,
"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": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002891.6",
"gene_symbol": "RASGRF1",
"hgnc_id": 9875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2965G>C",
"hgvs_p": "p.Asp989His"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}