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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: 15-78991760-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=78991760&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 78991760,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_002891.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3062A>T",
"hgvs_p": "p.His1021Leu",
"transcript": "NM_001145648.3",
"protein_id": "NP_001139120.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3062,
"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": "H",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3062A>T",
"hgvs_p": "p.His1021Leu",
"transcript": "ENST00000558480.7",
"protein_id": "ENSP00000452781.2",
"transcript_support_level": 2,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1257,
"cds_start": 3062,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.His253Leu",
"transcript": "ENST00000394745.3",
"protein_id": "ENSP00000378228.3",
"transcript_support_level": 1,
"aa_start": 253,
"aa_end": null,
"aa_length": 489,
"cds_start": 758,
"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": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "n.2932A>T",
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3110A>T",
"hgvs_p": "p.His1037Leu",
"transcript": "NM_002891.6",
"protein_id": "NP_002882.3",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3110,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3110A>T",
"hgvs_p": "p.His1037Leu",
"transcript": "ENST00000419573.7",
"protein_id": "ENSP00000405963.3",
"transcript_support_level": 2,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1273,
"cds_start": 3110,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.His253Leu",
"transcript": "NM_153815.3",
"protein_id": "NP_722522.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 489,
"cds_start": 758,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3101A>T",
"hgvs_p": "p.His1034Leu",
"transcript": "XM_017022455.3",
"protein_id": "XP_016877944.1",
"transcript_support_level": null,
"aa_start": 1034,
"aa_end": null,
"aa_length": 1270,
"cds_start": 3101,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3110A>T",
"hgvs_p": "p.His1037Leu",
"transcript": "XM_011521866.4",
"protein_id": "XP_011520168.1",
"transcript_support_level": null,
"aa_start": 1037,
"aa_end": null,
"aa_length": 1261,
"cds_start": 3110,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3071A>T",
"hgvs_p": "p.His1024Leu",
"transcript": "XM_017022456.3",
"protein_id": "XP_016877945.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1260,
"cds_start": 3071,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3071A>T",
"hgvs_p": "p.His1024Leu",
"transcript": "XM_017022457.3",
"protein_id": "XP_016877946.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1248,
"cds_start": 3071,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.3062A>T",
"hgvs_p": "p.His1021Leu",
"transcript": "XM_017022458.3",
"protein_id": "XP_016877947.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1245,
"cds_start": 3062,
"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": "H",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "c.758A>T",
"hgvs_p": "p.His253Leu",
"transcript": "XM_047432926.1",
"protein_id": "XP_047288882.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 489,
"cds_start": 758,
"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": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "n.267A>T",
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RASGRF1",
"gene_hgnc_id": 9875,
"hgvs_c": "n.217A>T",
"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": "rs375185257",
"frequency_reference_population": 0.00010286651,
"hom_count_reference_population": 1,
"allele_count_reference_population": 166,
"gnomad_exomes_af": 0.000108092,
"gnomad_genomes_af": 0.0000526253,
"gnomad_exomes_ac": 158,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0946153998374939,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.168,
"revel_prediction": "Benign",
"alphamissense_score": 0.1255,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.446,
"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_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_002891.6",
"gene_symbol": "RASGRF1",
"hgnc_id": 9875,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3110A>T",
"hgvs_p": "p.His1037Leu"
}
],
"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
}