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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: 12-7080650-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=7080650&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 7080650,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001354346.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Arg667His",
"transcript": "NM_001733.7",
"protein_id": "NP_001724.4",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 705,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647956.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001733.7"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2000G>A",
"hgvs_p": "p.Arg667His",
"transcript": "ENST00000647956.2",
"protein_id": "ENSP00000497341.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 705,
"cds_start": 2000,
"cds_end": null,
"cds_length": 2118,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001733.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647956.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2153G>A",
"hgvs_p": "p.Arg718His",
"transcript": "ENST00000903851.1",
"protein_id": "ENSP00000573910.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 756,
"cds_start": 2153,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903851.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2072G>A",
"hgvs_p": "p.Arg691His",
"transcript": "ENST00000903850.1",
"protein_id": "ENSP00000573909.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 729,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903850.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681His",
"transcript": "NM_001354346.2",
"protein_id": "NP_001341275.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 719,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354346.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681His",
"transcript": "ENST00000536053.6",
"protein_id": "ENSP00000444271.3",
"transcript_support_level": 2,
"aa_start": 681,
"aa_end": null,
"aa_length": 719,
"cds_start": 2042,
"cds_end": null,
"cds_length": 2160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536053.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2039G>A",
"hgvs_p": "p.Arg680His",
"transcript": "ENST00000943406.1",
"protein_id": "ENSP00000613465.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 718,
"cds_start": 2039,
"cds_end": null,
"cds_length": 2157,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943406.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.2036G>A",
"hgvs_p": "p.Arg679His",
"transcript": "ENST00000943405.1",
"protein_id": "ENSP00000613464.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 717,
"cds_start": 2036,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943405.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.1991G>A",
"hgvs_p": "p.Arg664His",
"transcript": "ENST00000903849.1",
"protein_id": "ENSP00000573908.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 702,
"cds_start": 1991,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903849.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.1973G>A",
"hgvs_p": "p.Arg658His",
"transcript": "ENST00000903852.1",
"protein_id": "ENSP00000573911.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 696,
"cds_start": 1973,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903852.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.1898G>A",
"hgvs_p": "p.Arg633His",
"transcript": "ENST00000535233.6",
"protein_id": "ENSP00000438636.3",
"transcript_support_level": 2,
"aa_start": 633,
"aa_end": null,
"aa_length": 671,
"cds_start": 1898,
"cds_end": null,
"cds_length": 2016,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535233.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.1853G>A",
"hgvs_p": "p.Arg618His",
"transcript": "ENST00000943404.1",
"protein_id": "ENSP00000613463.1",
"transcript_support_level": null,
"aa_start": 618,
"aa_end": null,
"aa_length": 656,
"cds_start": 1853,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943404.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.1838G>A",
"hgvs_p": "p.Arg613His",
"transcript": "ENST00000903848.1",
"protein_id": "ENSP00000573907.1",
"transcript_support_level": null,
"aa_start": 613,
"aa_end": null,
"aa_length": 651,
"cds_start": 1838,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903848.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "c.938G>A",
"hgvs_p": "p.Arg313His",
"transcript": "ENST00000649804.1",
"protein_id": "ENSP00000497938.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 351,
"cds_start": 938,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "n.3065G>A",
"hgvs_p": null,
"transcript": "ENST00000540394.5",
"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": "retained_intron",
"feature": "ENST00000540394.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "n.2349G>A",
"hgvs_p": null,
"transcript": "ENST00000602298.2",
"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": "retained_intron",
"feature": "ENST00000602298.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "C1R",
"gene_hgnc_id": 1246,
"hgvs_c": "n.*91G>A",
"hgvs_p": null,
"transcript": "ENST00000648162.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000648162.1"
}
],
"gene_symbol": "C1R",
"gene_hgnc_id": 1246,
"dbsnp": "rs774394869",
"frequency_reference_population": 0.000008675467,
"hom_count_reference_population": 0,
"allele_count_reference_population": 14,
"gnomad_exomes_af": 0.00000889369,
"gnomad_genomes_af": 0.00000657739,
"gnomad_exomes_ac": 13,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5080488920211792,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.0825,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.014,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001354346.2",
"gene_symbol": "C1R",
"hgnc_id": 1246,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2042G>A",
"hgvs_p": "p.Arg681His"
}
],
"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
}