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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: 7-150284799-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=150284799&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 150284799,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001164458.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "NM_001164458.2",
"protein_id": "NP_001157930.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": "ENST00000683684.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "ENST00000683684.1",
"protein_id": "ENSP00000507618.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1157,
"mane_select": "NM_001164458.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "ENST00000252071.8",
"protein_id": "ENSP00000252071.4",
"transcript_support_level": 1,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 708,
"cdna_end": null,
"cdna_length": 1218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.512A>C",
"hgvs_p": "p.Glu171Ala",
"transcript": "ENST00000478393.5",
"protein_id": "ENSP00000417426.1",
"transcript_support_level": 1,
"aa_start": 171,
"aa_end": null,
"aa_length": 208,
"cds_start": 512,
"cds_end": null,
"cds_length": 627,
"cdna_start": 512,
"cdna_end": null,
"cdna_length": 5697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "NM_001164459.2",
"protein_id": "NP_001157931.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 791,
"cdna_end": null,
"cdna_length": 1302,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "ENST00000539352.5",
"protein_id": "ENSP00000440990.2",
"transcript_support_level": 5,
"aa_start": 173,
"aa_end": null,
"aa_length": 189,
"cds_start": 518,
"cds_end": null,
"cds_length": 570,
"cdna_start": 518,
"cdna_end": null,
"cdna_length": 570,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_047420748.1",
"protein_id": "XP_047276704.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 280,
"cds_start": 518,
"cds_end": null,
"cds_length": 843,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 7020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_011516506.4",
"protein_id": "XP_011514808.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 2400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_011516507.3",
"protein_id": "XP_011514809.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 3147,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_011516508.3",
"protein_id": "XP_011514810.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 210,
"cds_start": 518,
"cds_end": null,
"cds_length": 633,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_005250043.5",
"protein_id": "XP_005250100.3",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 209,
"cds_start": 518,
"cds_end": null,
"cds_length": 630,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_047420749.1",
"protein_id": "XP_047276705.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 197,
"cds_start": 518,
"cds_end": null,
"cds_length": 594,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala",
"transcript": "XM_011516511.4",
"protein_id": "XP_011514813.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 194,
"cds_start": 518,
"cds_end": null,
"cds_length": 585,
"cdna_start": 646,
"cdna_end": null,
"cdna_length": 1835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.547A>C",
"hgvs_p": null,
"transcript": "NR_147012.2",
"protein_id": null,
"transcript_support_level": null,
"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": 8638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.484A>C",
"hgvs_p": null,
"transcript": "NR_147013.2",
"protein_id": null,
"transcript_support_level": null,
"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": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.646A>C",
"hgvs_p": null,
"transcript": "XR_007060141.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3198,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.646A>C",
"hgvs_p": null,
"transcript": "XR_007060142.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.646A>C",
"hgvs_p": null,
"transcript": "XR_007060143.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.646A>C",
"hgvs_p": null,
"transcript": "XR_007060144.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1292,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "n.646A>C",
"hgvs_p": null,
"transcript": "XR_007060145.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"hgvs_c": "c.-24A>C",
"hgvs_p": null,
"transcript": "NM_001351028.2",
"protein_id": "NP_001337957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 119,
"cds_start": -4,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8630,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACTR3C",
"gene_hgnc_id": 37282,
"dbsnp": "rs187747289",
"frequency_reference_population": 0.000012394953,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.00000547483,
"gnomad_genomes_af": 0.0000787774,
"gnomad_exomes_ac": 8,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.29416054487228394,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.525,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.131,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.287,
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_001164458.2",
"gene_symbol": "ACTR3C",
"hgnc_id": 37282,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.518A>C",
"hgvs_p": "p.Glu173Ala"
}
],
"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
}